Bestrophin (BEST1) (NM_001300786) Human Untagged Clone

Specifications

Product Data
Type	Human Untagged Clone
Tag	Tag Free
Synonyms	ARB; BEST; Best1V1Delta2; BMD; RP50; TU15B; VMD2
Vector	pCMV6-Entry
E. coli Selection	Kanamycin (25 ug/mL)
Mammalian Cell Selection	Neomycin
Sequence Data	Fully Sequenced ORF (showhide) >SC336469 representing NM_001300786. Blue=Insert sequence Red=Cloning site Green=Tag(s) GCTCGTTTAGTGAACCGTCAGAATTTTGTAATACGACTCACTATAGGGCGGCCGGGAATTCGTCGACTG GATCCGGTACCGAGGAGATCTGCCGCCGCGATCGCC ATGTTTGAGAAACTGACTCTGTATTGCGACAGCTACATCCAGCTCATCCCCATTTCCTTCGTGCTGGGC TTCTACGTGACGCTGGTCGTGACCCGCTGGTGGAACCAGTACGAGAACCTGCCGTGGCCCGACCGCCTC ATGAGCCTGGTGTCGGGCTTCGTCGAAGGCAAGGACGAGCAAGGCCGGCTGCTGCGGCGCACGCTCATC CGCTACGCCAACCTGGGCAACGTGCTCATCCTGCGCAGCGTCAGCACCGCAGTCTACAAGCGCTTCCCC AGCGCCCAGCACCTGGTGCAAGCAGGCTTTATGACTCCGGCAGAACACAAGCAGTTGGAGAAACTGAGC CTACCACACAACATGTTCTGGGTGCCCTGGGTGTGGTTTGCCAACCTGTCAATGAAGGCGTGGCTTGGA GGTCGAATCCGGGACCCTATCCTGCTCCAGAGCCTGCTGAACGAGATGAACACCTTGCGTACTCAGTGT GGACACCTGTATGCCTACGACTGGATTAGTATCCCACTGGTGTATACACAGGTGGTGACTGTGGCGGTG TACAGCTTCTTCCTGACTTGTCTAGTTGGGCGGCAGTTTCTGAACCCAGCCAAGGCCTACCCTGGCCAT GAGCTGGACCTCGTTGTGCCCGTCTTCACGTTCCTGCAGTTCTTCTTCTATGTTGGCTGGCTGAAGGTG TCCCTGTTGGCTGTGGATGAGATGCACCAGGACCTGCCTCGGATGGAGCCGGACATGTACTGGAATAAG CCCGAGCCACAGCCCCCCTACACAGCTGCTTCCGCCCAGTTCCGTCGAGCCTCCTTTATGGGCTCCACC TTCAACATCAGCCTGAACAAAGAGGAGATGGAGTTCCAGCCCAATCAGGAGGACGAGGAGGATGCTCAC GCTGGCATCATTGGCCGCTTCCTAGGCCTGCAGTCCCATGATCACCATCCTCCCAGGGCAAACTCAAGG ACCAAACTACTGTGGCCCAAGAGGGAATCCCTTCTCCACGAGGGCCTGCCCAAAAACCACAAGGCAGCC AAACAGAACGTTAGGGGCCAGGAAGACAACAAGGCCTGGAAGCTTAAGGCTGTGGACGCCTTCAAGTCT GCCCCACTGTATCAGAGGCCAGGCTACTACAGTGCCCCACAGACGCCCCTCAGCCCCACTCCCATGTTC TTCCCCCTAGAACCATCAGCGCCGTCAAAGCTTCACAGTGTCACAGGCATAGACACCAAAGACAAAAGC TTAAAGACTGTGAGTTCTGGGGCCAAGAAAAGTTTTGAATTGCTCTCAGAGAGCGATGGGGCCTTGATG GAGCACCCAGAAGTATCTCAAGTGAGGAGGAAAACTGTGGAGTTTAACCTGACGGATATGCCAGAGATC CCCGAAAATCACCTCAAAGAACCTTTGGAACAATCACCAACCAACATACACACTACACTCAAAGATCAC ATGGATCCTTATTGGGCCTTGGAAAACAGGGATGAAGCACATTCCTAA ACGCGTACGCGGCCGCTCGAGCAGAAACTCATCTCAGAAGAGGATCTGGCAGCAAATGATATCCTGGAT TACAAGGATGACGACGATAAGGTTTAAACGGCCGGC
Restriction Sites	SgfI-MluI
ACCN	NM_001300786
Insert Size	1497 bp
OTI Disclaimer	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).
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_001300786.1
RefSeq Size	2421 bp
RefSeq ORF	1497 bp
Locus ID	7439
UniProt ID	O76090
Protein Families	Druggable Genome, Ion Channels: Other, Transmembrane
MW	57.3 kDa
Gene Summary	This gene encodes a member of the bestrophin gene family. This small gene family is characterized by proteins with a highly conserved N-terminus with four to six transmembrane domains. Bestrophins may form chloride ion channels or may regulate voltage-gated L-type calcium-ion channels. Bestrophins are generally believed to form calcium-activated chloride-ion channels in epithelial cells but they have also been shown to be highly permeable to bicarbonate ion transport in retinal tissue. Mutations in this gene are responsible for juvenile-onset vitelliform macular dystrophy (VMD2), also known as Best macular dystrophy, in addition to adult-onset vitelliform macular dystrophy (AVMD) and other retinopathies. Alternative splicing results in multiple variants encoding distinct isoforms.[provided by RefSeq, Nov 2008] Transcript Variant: This variant (3) lacks an alternate in-frame exon and differs in the 3' UTR and coding sequence compared to variant 2. The resulting isoform (3) lacks an alternate internal segment and has a shorter and distinct C-terminus compared to isoform 2.

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