MMAB
methylmalonic aciduria (cobalamin deficiency) cblB type
Sinónimos:
ATR, cblB, cob
Especie:
Human MMAB (326625), Mouse Mmab (77697), Rat Mmab (687861), cow MMAB (617636), domestic cat MMAB (101093552), sheep MMAB (101114057), dog MMAB (486310), Zebrafish mmab (557077), naked mole-rat Mmab (101708163), chicken MMAB (426287)
ID UniProtKB:
ID del gen:
- Human(326625) Summary: This gene encodes a protein that catalyzes the final step in the conversion of vitamin B(12) into adenosylcobalamin (AdoCbl), a vitamin B12-containing coenzyme for methylmalonyl-CoA mutase. Mutations in the gene are the cause of vitamin B12-dependent methylmalonic aciduria linked to the cblB complementation group. Alternatively spliced transcript variants have been found. [provided by RefSeq, Apr 2011]
- Mouse(77697) methylmalonic aciduria (cobalamin deficiency) type B homolog (human)
- Rat(687861) methylmalonic aciduria (cobalamin deficiency) cblB type
- cow(617636) methylmalonic aciduria (cobalamin deficiency) cblB type
- domestic cat(101093552) methylmalonic aciduria (cobalamin deficiency) cblB type
- sheep(101114057) methylmalonic aciduria (cobalamin deficiency) cblB type
- dog(486310) methylmalonic aciduria (cobalamin deficiency) cblB type
- Zebrafish(557077) methylmalonic aciduria (cobalamin deficiency) cblB type
- naked mole-rat(101708163) methylmalonic aciduria (cobalamin deficiency) cblB type
- chicken(426287) methylmalonic aciduria (cobalamin deficiency) cblB type
- domestic guinea pig(100714062) methylmalonic aciduria (cobalamin deficiency) cblB type
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