C2ORF25 (MMADHC) (NM_015702) Human Recombinant Protein
CAT#: TP304801M
Recombinant protein of human methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria (MMADHC), nuclear gene encoding mitochondrial protein, 100 µg
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Specifications
Product Data | |
Species | Human |
Expression Host | HEK293T |
Expression cDNA Clone or AA Sequence |
>RC204801 protein sequence
Red=Cloning site Green=Tags(s) MANVLCNRARLVSYLPGFCSLVKRVVNPKAFSTAGSSGSDESHVAAAPPDICSRTVWPDETMGPFGPQDQ RFQLPGNIGFDCHLNGTASQKKSLVHKTLPDVLAEPLSSERHEFVMAQYVNEFQGNDAPVEQEINSAETY FESARVECAIQTCPELLRKDFESLFPEVANGKLMILTVTQKTKNDMTVWSEEVEIEREVLLEKFINGAKE ICYALRAEGYWADFIDPSSGLAFFGPYTNNTLFETDERYRHLGFSVDDLGCCKVIRHSLWGTHVVVGSIF TNATPDSHIMKKLSGN TRTRPLEQKLISEEDLAANDILDYKDDDDKV |
Tag | C-Myc/DDK |
Predicted MW | 32.8 kDa |
Concentration | >0.05 µg/µL as determined by microplate BCA method |
Purity | > 80% as determined by SDS-PAGE and Coomassie blue staining |
Buffer | 25 mM Tris-HCl, 100 mM glycine, pH 7.3, 10% glycerol |
Preparation | Recombinant protein was captured through anti-DDK affinity column followed by conventional chromatography steps. |
Note | For testing in cell culture applications, please filter before use. Note that you may experience some loss of protein during the filtration process. |
Storage | Store at -80°C. |
Stability | Stable for 12 months from the date of receipt of the product under proper storage and handling conditions. Avoid repeated freeze-thaw cycles. |
Reference Data | |
RefSeq | NP_056517 |
Locus ID | 27249 |
UniProt ID | Q9H3L0 |
Refseq Size | 1466 |
Cytogenetics | 2q23.2 |
Refseq ORF | 888 |
Synonyms | C2orf25; cblD; CL25022 |
Summary | This gene encodes a mitochondrial protein that is involved in an early step of vitamin B12 metabolism. Vitamin B12 (cobalamin) is essential for normal development and survival in humans. Mutations in this gene cause methylmalonic aciduria and homocystinuria type cblD (MMADHC), a disorder of cobalamin metabolism that is characterized by decreased levels of the coenzymes adenosylcobalamin and methylcobalamin. Pseudogenes have been identified on chromosomes 11 and X.[provided by RefSeq, Nov 2008] |
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