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Reelin (RELN) (NM_173054) Human Untagged Clone
CAT＃: SC306773
RELN (untagged)-Human reelin (RELN), transcript variant 2
CNY 66,600.00
货期*
详询
规格
Product images
经常一起买 (4)
Specifications
| Product Data | |
| Type | Human Untagged Clone |
| Tag | Tag Free |
| Synonyms | ETL7; LIS2; PRO1598; RL |
| Vector | pCMV6 series |
| Sequence Data |
>NCBI ORF sequence for NM_173054, the custom clone sequence may differ by one or more nucleotides
ATGGAGCGCAGTGGCTGGGCCCGGCAGACTTTCCTCCTAGCGCTGTTGCTGGGGGCGACG CTGAGGGCGCGCGCGGCGGCTGGCTATTACCCCCGCTTTTCGCCCTTCTTTTTCCTGTGC ACCCACCACGGGGAGCTGGAAGGGGATGGGGAGCAGGGCGAGGTGCTCATTTCCCTGCAT ATTGCGGGCAACCCCACCTACTACGTTCCGGGACAAGAATACCATGTGACAATTTCAACA AGCACCTTTTTTGACGGCTTGCTGGTGACAGGACTATACACATCTACAAGTGTTCAGGCA TCACAGAGCATTGGAGGTTCCAGTGCTTTCGGATTTGGGATCATGTCTGACCACCAGTTT GGTAACCAGTTTATGTGCAGTGTGGTAGCCTCTCACGTGAGTCACCTGCCCACAACCAAC CTCAGTTTCATCTGGATTGCTCCACCTGCGGGCACAGGCTGTGTGAATTTCATGGCTACA GCAACACACCGGGGCCAGGTTATTTTCAAAGATGCTTTAGCCCAGCAGTTGTGTGAACAA GGAGCTCCAACAGATGTCACTGTGCACCCACATCTAGCTGAAATACATAGTGACAGCATT ATCCTGAGAGATGACTTTGACTCCTACCACCAACTGCAATTAAATCCAAATATATGGGTT GAATGTAACAACTGTGAGACTGGAGAACAGTGTGGCGCGATTATGCATGGCAATGCCGTC ACCTTCTGTGAACCATATGGCCCACGAGAACTGATTACCACAGGCCTTAATACAACAACA GCTTCTGTCCTCCAATTTTCCATTGGGTCAGGTTCATGTCGCTTTAGTTATTCAGACCCC AGCATCATCGTGTTATATGCCAAGAATAACTCTGCGGACTGGATTCAGCTAGAGAAAATT AGAGCCCCTTCCAATGTCAGCACAATCATCCATATCCTCTACCTTCCTGAGGACGCCAAA GGGGAGAATGTCCAATTTCAGTGGAAGCAGGAAAATCTTCGTGTAGGTGAAGTGTATGAA GCCTGCTGGGCCTTAGATAACATCTTGATCATCAATTCAGCTCACAGACAAGTCGTTTTA GAAGATAGTCTCGACCCAGTGGACACAGGCAACTGGCTTTTCTTCCCAGGAGCTACAGTT AAGCATAGCTGTCAGTCAGATGGGAACTCCATTTATTTCCATGGAAATGAAGGCAGCGAG TTCAATTTTGCCACCACCAGGGATGTAGATCTTTCCACAGAAGATATTCAAGAGCAATGG TCAGAAGAATTTGAGAGCCAGCCTACAGGATGGGATGTCTTGGGAGCTGTCATTGGTACA GAATGTGGAACGATAGAATCAGGCTTATCAATGGTCTTCCTCAAAGATGGAGAGAGGAAA TTATGCACTCCATCCATGGACACTACCGGTTATGGGAACCTGAGGTTTTACTTTGTGATG GGAGGAATTTGTGACCCTGGAAATTCTCATGAAAATGACATAATCCTGTATGCAAAAATT GAAGGAAGAAAAGAGCATATAACACTGGATACCCTTTCCTATTCCTCATATAAGGTTCCG TCTTTGGTTTCTGTGGTCATCAATCCTGAACTTCAGACTCCTGCTACCAAATTTTGTCTC AGGCAAAAGAACCATCAAGGACATAATAGGAATGTCTGGGCTGTAGACTTTTTCCATGTC TTGCCTGTTCTCCCTTCTACAATGTCTCACATGATACAGTTTTCCATCAATCTGGGATGT GGAACGCATCAGCCTGGTAACAGTGTCAGCTTGGAATTTTCTACCAACCATGGGCGCTCC TGGTCCCTCCTTCACACTGAATGCTTACCTGAGATCTGTGCTGGACCCCACCTCCCCCAC AGCACTGTCTACTCCTCTGAAAACTACAGTGGGTGGAACCGAATAACAATTCCCCTTCCT AACGCAGCACTAACCCGGAACACCAGGATTCGCTGGAGACAAACAGGACCAATCCTTGGA AACATGTGGGCAATTGATAATGTTTATATTGGCCCGTCATGTCTCAAATTCTGTTCTGGC AGAGGACAGTGCACTAGACATGGTTGCAAGTGTGACCCTGGATTTTCTGGCCCAGCTTGT GAGATGGCATCCCAGACATTCCCAATGTTTATTTCTGAAAGCTTTGGCAGTTCCAGGCTC TCCTCTTACCATAACTTTTACTCTATCCGTGGTGCTGAAGTCAGCTTTGGTTGTGGTGTC TTGGCCAGTGGTAAGGCCCTGGTTTTCAACAAAGATGGGCGGCGTCAGCTAATTACATCT TTCCTTGACAGCTCACAATCCAGGTTTCTCCAGTTCACACTGAGACTGGGGAGCAAATCT GTTCTGAGCACGTGCAGAGCCCCTGATCAGCCTGGTGAAGGAGTTTTGTTGCATTATTCT TATGATAATGGGATAACTTGGAAACTCCTGGAGCATTATTCATATCTCAGCTATCATGAG CCCAGAATAATCTCCGTAGAACTACCAGGTGATGCAAAGCAGTTTGGAATTCAGTTCAGA TGGTGGCAACCGTATCATTCTTCCCAGAGAGAAGATGTATGGGCTATTGATGAGATTATC ATGACATCTGTGCTTTTCAACAGCATTAGTCTTGACTTTACCAATCTTGTGGAGGTCACT CAGTCTCTGGGATTCTACCTTGGAAATGTTCAGCCATACTGTGGCCACGACTGGACCCTT TGTTTTACAGGAGATTCTAAACTTGCCTCAAGTATGCGCTATGTGGAAACACAATCAATG CAGATAGGAGCATCCTATATGATTCAGTTCAGTTTGGTGATGGGATGTGGCCAGAAATAC ACCCCACACATGGACAACCAGGTGAAGCTGGAGTACTCAACCAACCACGGCCTTACCTGG CACCTCGTCCAAGAAGAATGCCTTCCAAGTATGCCAAGTTGTCAGGAATTTACATCAGCA AGTATTTACCATGCCAGTGAGTTTACACAGTGGAGGAGAGTCATAGTGCTTCTTCCCCAG AAAACTTGGTCCAGTGCTACCCGTTTCCGCTGGAGCCAGAGCTATTACACAGCTCAAGAC GAGTGGGCTTTGGACAGCATTTACATTGGGCAGCAGTGCCCCAACATGTGCAGTGGGCAT GGCTCATGCGATCATGGCATATGCAGGTGTGACCAGGGGTACCAAGGCACTGAATGCCAC CCAGAAGCTGCCCTTCCGTCCACAATTATGTCAGATTTTGAGAACCAGAATGGCTGGGAG TCTGACTGGCAAGAAGTTATTGGGGGAGAAATTGTAAAACCAGAACAAGGGTGTGGTGTC ATCTCTTCTGGATCATCTCTGTACTTCAGCAAGGCTGGGAAAAGACAGCTGGTGAGTTGG GACCTGGATACTTCTTGGGTGGACTTTGTCCAGTTCTACATCCAGATAGGCGGAGAGAGT GCTTCATGCAACAAGCCTGACAGCAGAGAGGAGGGCGTCCTCCTTCAGTACAGCAACAAT GGGGGCATCCAGTGGCACCTGCTAGCAGAGATGTACTTTTCAGACTTCAGCAAACCCAGA TTTGTCTATCTGGAGCTTCCAGCTGCTGCCAAGACCCCTTGCACCAGGTTCCGCTGGTGG CAGCCCGTGTTCTCAGGGGAGGACTATGACCAGTGGGCAGTCGATGACATCATCATTCTG TCCGAGAAGCAGAAGCAGATCATCCCAGTTATCAATCCAACTTTACCTCAGAACTTTTAT GAGAAGCCAGCTTTTGATTACCCTATGAATCAGATGAGTGTGTGGTTGATGTTGGCTAAT GAAGGAATGGTTAAAAATGAAACCTTCTGTGCTGCCACACCATCAGCAATGATATTTGGA AAATCAGATGGAGATCGATTTGCAGTAACTCGAGATTTGACCCTGAAACCTGGATATGTG CTACAGTTCAAGCTAAACATAGGTTGTGCCAATCAATTCAGCAGTACTGCTCCAGTTCTT CTTCAGTACTCTCATGATGCTGGTATGTCCTGGTTTCTGGTGAAAGAAGGCTGTTACCCG GCTTCTGCAGGCAAAGGATGCGAAGGAAACTCCAGAGAACTAAGTGAGCCCACCATGTAT CACACAGGGGACTTTGAAGAATGGACAAGAATCACCATTGTTATTCCAAGGTCTCTTGCA TCCAGCAAGACCAGATTCCGATGGATCCAGGAGAGCAGCTCACAGAAAAACGTGCCTCCA TTTGGTTTAGATGGAGTGTACATATCCGAGCCTTGTCCCAGTTACTGCAGTGGCCATGGG GACTGCATTTCAGGAGTGTGTTTCTGTGACCTGGGATATACTGCTGCACAAGGAACCTGT GTGTCAAATGTCCCCAATCACAATGAGATGTTCGATAGGTTTGAGGGGAAGCTCAGCCCT CTGTGGTACAAGATAACAGGTGCCCAGGTTGGAACTGGCTGTGGAACACTTAACGATGGC AAATCTCTCTACTTCAATGGCCCTGGGAAAAGGGAAGCCCGGACGGTCCCTCTGGACACC AGGAATATCAGACTTGTTCAATTTTATATACAAATTGGAAGCAAAACTTCAGGCATTACC TGCATCAAACCAAGAACTAGAAATGAAGGGCTTATTGTTCAGTATTCAAATGACAATGGG ATACTCTGGCATTTGCTTCGAGAGTTGGACTTCATGTCCTTCCTGGAACCACAGATCATT TCCATTGACCTGCCACAGGACGCGAAGACACCTGCAACGGCATTTCGATGGTGGCAACCG CAACATGGGAAGCATTCAGCCCAGTGGGCTTTGGATGATGTTCTTATAGGAATGAATGAC AGCTCTCAAACTGGATTTCAAGACAAATTTGATGGCTCTATAGATTTGCAAGCCAACTGG TATCGAATCCAAGGAGGTCAAGTTGATATTGACTGTCTCTCTATGGATACTGCTCTGATA TTCACTGAAAACATAGGAAAACCTCGTTATGCTGAGACCTGGGATTTTCATGTGTCAGCA TCTACCTTTTTGCAGTTTGAAATGAGCATGGGCTGTAGCAAGCCCTTCAGCAACTCCCAC AGTGTACAGCTCCAGTATTCTCTGAACAATGGCAAGGACTGGCATCTTGTCACCGAAGAG TGTGTTCCTCCAACCATTGGCTGTCTGCATTACACGGAAAGTTCAATTTACACCTCGGAA AGATTCCAGAATTGGAAGCGGATCACTGTCTACCTTCCACTCTCCACCATTTCTCCCAGG ACCCGGTTCAGATGGATTCAGGCCAACTACACTGTGGGGGCTGATTCCTGGGCGATTGAT AATGTTGTACTGGCCTCAGGGTGCCCTTGGATGTGCTCAGGACGAGGGATTTGTGATGCT GGACGCTGTGTGTGTGACCGGGGCTTTGGTGGACCCTATTGTGTTCCTGTTGTTCCTCTG CCCTCGATTCTTAAAGACGATTTCAATGGGAATTTACATCCTGACCTTTGGCCTGAAGTG TATGGTGCAGAGAGGGGGAATCTGAATGGTGAAACCATCAAATCTGGAACATCTCTAATT TTTAAAGGGGAAGGACTAAGGATGCTTATTTCAAGAGATCTAGATTGTACAAATACAATG TATGTCCAGTTTTCACTTAGATTTATAGCAAAAAGTACCCCAGAGAGATCTCACTCTATT CTGTTACAATTCTCCATCAGTGGAGGAATCACTTGGCACCTGATGGATGAATTTTACTTT CCTCAAACAACGAATATACTTTTCATCAATGTTCCCTTGCCATACACTGCCCAAACCAAT GCTACAAGATTCAGACTCTGGCAACCTTATAATAACGGTAAGAAAGAAGAAATCTGGATT GTTGATGACTTCATTATCGATGGAAATAATGTAAACAACCCTGTGATGCTCTTGGATACA TTTGATTTTGGGCCCAGAGAAGACAATTGGTTTTTCTATCCTGGTGGTAACATCGGTCTT TATTGTCCATATTCTTCAAAGGGGGCACCTGAAGAAGATTCAGCTATGGTGTTTGTTTCA AATGAAGTTGGTGAGCATTCCATTACCACCCGTGACCTAAATGTGAATGAGAACACCATC ATACAATTTGAGATCAACGTTGGCTGTTCGACTGATAGCTCATCCGCGGATCCAGTGAGA CTGGAATTTTCAAGGGACTTCGGGGCGACCTGGCACCTTCTGCTGCCCCTCTGCTACCAC AGCAGCAGCCACGTCAGCTCTTTATGCTCCACCGAGCACCACCCCAGCAGCACCTACTAC GCAGGAACCATGCAGGGCTGGAGGAGGGAGGTCGTGCACTTTGGGAAGCTGCACCTTTGT GGATCTGTCCGTTTCAGATGGTACCAGGGATTTTACCCTGCCGGCTCTCAGCCAGTGACA TGGGCCATTGATAATGTCTACATCGGTCCCCAGTGTGAGGAGATGTGTAATGGACAGGGG AGCTGTATCAATGGAACCAAATGTATATGTGACCCTGGCTACTCAGGTCCAACCTGTAAA ATAAGCACCAAAAATCCTGATTTTCTCAAAGATGATTTCGAAGGTCAGCTAGAATCTGAT AGATTCTTATTAATGAGTGGTGGGAAACCATCTCGAAAGTGTGGAATCCTTTCTAGTGGA AACAACCTCTTTTTCAATGAAGATGGCTTGCGCATGTTGATGACACGAGACCTGGATTTA TCACATGCTAGATTTGTGCAGTTCTTCATGAGACTGGGATGTGGTAAAGGCGTTCCTGAC CCCAGGAGTCAACCCGTGCTCCTACAGTATTCTCTCAACGGTGGCCTCTCGTGGAGTCTT CTTCAGGAGTTCCTTTTCAGCAATTCCAGCAATGTGGGCAGGTACATTGCCCTGGAGATA CCCTTGAAAGCCCGTTCTGGTTCTACTCGCCTTCGCTGGTGGCAACCGTCTGAGAATGGG CACTTCTACAGCCCCTGGGTTATCGATCAGATTCTTATTGGAGGAAATATTTCTGGTAAT ACGGTCTTGGAAGATGATTTCACAACCCTTGATAGTAGGAAATGGCTGCTTCACCCAGGA GGCACCAAGATGCCCGTGTGTGGCTCTACTGGTGATGCCCTGGTCTTCATTGAAAAGGCC AGCACCCGTTACGTGGTCAGCACAGACGTTGCCGTGAATGAGGATTCCTTCCTACAGATA GACTTCGCTGCCTCCTGCTCAGTCACAGACTCTTGTTATGCGATTGAATTGGAATACTCA GTAGATCTTGGATTGTCATGGCACCCATTGGTAAGGGACTGTCTGCCTACCAATGTGGAA TGCAGTCGCTATCATCTGCAACGGATCCTGGTGTCAGACACTTTCAACAAGTGGACTAGA ATCACTCTGCCTCTCCCTCCTTATACCAGGTCCCAAGCCACTCGTTTCCGTTGGCATCAA CCAGCTCCTTTTGACAAGCAGCAGACATGGGCAATAGATAATGTCTATATCGGGGATGGC TGCATAGACATGTGCAGTGGCCATGGGAGATGCATCCAGGGAAACTGCGTCTGTGATGAA CAGTGGGGTGGCCTGTACTGTGATGACCCCGAGACCTCTCTTCCAACCCAACTCAAAGAC AACTTCAATCGAGCTCCATCCAGTCAGAACTGGCTGACTGTGAACGGAGGGAAATTGAGT ACAGTGTGTGGAGCCGTGGCGTCGGGAATGGCTCTCCATTTCAGTGGGGGTTGTAGTCGA TTATTAGTCACTGTGGATCTAAACCTCACTAATGCTGAGTTCATCCAATTTTACTTCATG TATGGGTGCCTGATTACACCAAACAACCGTAACCAAGGTGTTCTCTTGGAATATTCTGTC AATGGAGGCATTACCTGGAACCTGCTCATGGAGATTTTCTATGACCAGTACAGTAAGCCC GGATTTGTGAATATCCTTCTCCCTCCTGATGCTAAAGAGATTGCCACTCGCTTCCGCTGG TGGCAGCCAAGACATGACGGCCTGGATCAGAACGACTGGGCCATTGACAATGTCCTCATC TCAGGCTCTGCTGACCAAAGGACCGTTATGCTGGACACCTTCAGCAGCGCCCCAGTACCC CAGCATGAGCGCTCCCCTGCAGATGCCGGCCCTGTCGGGAGGATCGCCTTTGACATGTTT ATGGAAGACAAAACTTCAGTGAATGAGCACTGGCTATTCCATGATGATTGTACAGTAGAA AGATTCTGTGACTCCCCTGATGGTGTGATGCTCTGTGGCAGTCATGATGGACGGGAGGTG TATGCAGTGACCCATGACCTGACTCCCACTGAAGGCTGGATTATGCAATTCAAGATCTCA GTTGGATGTAAGGTGTCTGAAAAAATTGCCCAGAATCAAATTCATGTGCAGTATTCTACT GACTTCGGTGTGAGTTGGAATTATCTGGTCCCTCAGTGCTTGCCTGCTGACCCAAAATGC TCTGGAAGTGTTTCTCAGCCATCTGTATTCTTTCCAACTAAAGGGTGGAAAAGGATCACC TACCCACTTCCTGAAAGCTTAGTGGGAAATCCGGTAAGGTTTAGGTTCTATCAGAAGTAC TCAGACATGCAGTGGGCAATCGATAATTTCTACCTGGGCCCTGGATGCTTGGACAACTGC AGGGGCCATGGAGATTGCTTAAGGGAACAGTGCATCTGTGATCCGGGATACTCAGGGCCA AACTGCTACTTGACCCACACTCTGAAGACTTTCCTGAAGGAACGCTTTGACAGTGAAGAA ATCAAACCTGACTTATGGATGTCCTTAGAAGGTGGAAGTACTTGCACTGAGTGTGGAATT CTTGCCGAGGACACTGCACTCTATTTTGGGGGATCCACTGTGAGACAAGCGGTTACACAA GATTTGGATCTTCGAGGTGCAAAGTTCCTGCAATACTGGGGGCGCATCGGTAGTGAGAAC AACATGACCTCTTGCCATCGTCCCATCTGCCGGAAGGAAGGCGTGCTGTTGGACTACTCT ACCGATGGAGGAATTACCTGGACTTTGCTCCATGAGATGGATTACCAGAAATACATTTCT GTTAGACACGACTACATACTTCTTCCTGAAGATGCCCTCACCAACACAACTCGACTTCGC TGGTGGCAGCCTTTTGTGATCAGCAATGGAATTGTGGTCTCTGGGGTGGAGCGTGCTCAG TGGGCACTGGACAACATTTTGATTGGTGGAGCAGAAATCAATCCCAGCCAATTGGTGGAC ACTTTTGATGATGAAGGCACTTCCCATGAAGAAAACTGGAGTTTTTACCCTAATGCTGTA AGGACAGCAGGATTTTGTGGCAATCCATCCTTTCACCTCTATTGGCCAAATAAAAAGAAG GACAAGACTCACAATGCTCTCTCCTCCCGAGAACTCATTATACAGCCAGGATACATGATG CAGTTTAAAATTGTGGTGGGTTGTGAAGCCACTTCTTGTGGTGACCTTCATTCCGTAATG CTGGAATACACTAAGGATGCAAGATCGGATTCCTGGCAGCTCGTACAGACCCAGTGCCTT CCTTCCTCTTCTAACAGCATTGGCTGCTCCCCTTTCCAGTTCCATGAAGCCACCATCTAC AACTCTGTCAACAGCTCAAGCTGGAAAAGAATCACCATCCAGCTGCCTGACCATGTCTCC TCTAGTGCAACACAGTTCCGCTGGATCCAGAAGGGAGAAGAAACTGAGAAGCAAAGCTGG GCAATTGACCACGTGTACATTGGAGAGGCTTGCCCCAAGCTCTGCAGCGGGCACGGATAC TGCACGACCGGTGCCATCTGCATCTGCGACGAGAGCTTCCAAGGTGATGACTGCTCTGTT TTCAGTCACGACCTTCCCAGTTATATTAAAGATAATTTTGAGTCCGCAAGAGTCACCGAG GCAAACTGGGAGACCATTCAAGGTGGAGTCATAGGAAGTGGCTGTGGGCAGCTGGCCCCC TACGCCCATGGAGACTCACTGTACTTTAATGGCTGTCAGATCAGGCAAGCAGCTACCAAG CCTCTGGATCTCACTCGAGCAAGCAAAATCATGTTTGTTTTGCAAATTGGGAGCATGTCG CAGACGGACAGCTGCAACAGTGACCTGAGTGGCCCCCACGCTGTGGACAAGGCAGTGCTG CTGCAATACAGCGTCAACAACGGGATCACCTGGCATGTCATCGCCCAGCACCAGCCAAAG GACTTCACACAAGCTCAGAGAGTGTCTTACAATGTCCCCCTGGAGGCACGGATGAAAGGA GTCTTACTGCGCTGGTGGCAACCACGCCACAATGGAACAGGTCATGATCAATGGGCTTTG GACCATGTGGAGGTCGTCCTCACTCGCAAACAAAATTACATGATGAATTTTTCACGACAA CATGGGCTCAGACATTTCTACAACAGAAGACGAAGGTCACTTAGGCGATACCCATGA |
| Restriction Sites | Please inquire |
| ACCN | NM_173054 |
| OTI Disclaimer | Due to the inherent nature of this plasmid, standard methods to replicate additional amounts of DNA in E. coli are highly likely to result in mutations and/or rearrangements. Therefore, OriGene does not guarantee the capability to replicate this plasmid DNA. Additional amounts of DNA can be purchased from OriGene with batch-specific, full-sequence verification at a reduced cost. Please contact our customer care team at custsupport@origene.com or by calling 301.340.3188 option 3 for pricing and delivery. Our molecular clone sequence data has been matched to the reference identifier above as a point of reference. Note that the complete sequence of our molecular clones may differ from the sequence published for this corresponding reference, e.g., by representing an alternative RNA splicing form or single nucleotide polymorphism (SNP). |
| OTI Annotation | This TrueClone is provided through our Custom Cloning Process that includes sub-cloning into OriGene's pCMV6 vector and full sequencing to provide a non-variant match to the expected reference without frameshifts, and is delivered as lyophilized plasmid DNA. |
| Product Components | The ORF clone is ion-exchange column purified and shipped in a 2D barcoded Matrix tube containing 10ug of transfection-ready, dried plasmid DNA (reconstitute with 100 ul of water). |
| Reconstitution | 1. Centrifuge at 5,000xg for 5min. 2. Carefully open the tube and add 100ul of sterile water to dissolve the DNA. 3. Close the tube and incubate for 10 minutes at room temperature. 4. Briefly vortex the tube and then do a quick spin (less than 5000xg) to concentrate the liquid at the bottom. 5. Store the suspended plasmid at -20°C. The DNA is stable for at least one year from date of shipping when stored at -20°C. |
| Reference Data | |
| RefSeq | NM_173054.1, NP_774959.1 |
| RefSeq Size | 11558 bp |
| RefSeq ORF | 10377 bp |
| Locus ID | 5649 |
| UniProt ID | P78509 |
| Protein Families | Druggable Genome |
| Protein Pathways | ECM-receptor interaction, Focal adhesion |
| Gene Summary | This gene encodes a large secreted extracellular matrix protein thought to control cell-cell interactions critical for cell positioning and neuronal migration during brain development. This protein may be involved in schizophrenia, autism, bipolar disorder, major depression and in migration defects associated with temporal lobe epilepsy. Mutations of this gene are associated with autosomal recessive lissencephaly with cerebellar hypoplasia. Two transcript variants encoding distinct isoforms have been identified for this gene. Other transcript variants have been described but their full length nature has not been determined. [provided by RefSeq, Jul 2008] Transcript Variant: This variant (2) lacks an in-frame, 6 nt microexon in the coding region compared to variant 1, resulting in an isoform (b) that is 2 aa shorter than isoform a. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. |
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