Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
Immunogen sequence: EMWDKMKDFQ DLMLASGELT AKRRKQQKVW MWNLIQESVL EHFRTHPTVR EQIPLLEQKV LIGALSPGLA ADFL
Highest antigen sequence identity to the following orthologs: Mouse - 76%, Rat - 74%.
The protein encoded by this gene is involved in the translocation of cobalamin into the mitochondrion, where it is used in the final steps of adenosylcobalamin synthesis. Adenosylcobalamin is a coenzyme required for the activity of methylmalonyl-CoA mutase. Defects in this gene are a cause of methylmalonic aciduria.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: Methylmalonic aciduria type A protein, mitochondrial; mutant adenosylcobalamin
Gene Aliases: cblA; MMAA
UniProt ID: (Human) Q8IVH4
Entrez Gene ID: (Human) 166785
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