MMADHC
methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria
Synonyme:
C2orf25, CL25022, cblD
Spezies:
Human MMADHC (27249), Mouse Mmadhc (109129), Rat Mmadhc (362134), domestic guinea pig Mmadhc (100730134), naked mole-rat Mmadhc (101715098), chicken MMADHC (424311), Zebrafish mmadhc (402886), dog MMADHC (476145), cow MMADHC (521533)
UniProtKB-ID:
Gen-ID:
- Human(27249) 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]
- Mouse(109129) methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria
- Rat(362134) methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria
- domestic guinea pig(100730134) methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria
- naked mole-rat(101715098) methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria
- chicken(424311) methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria
- Zebrafish(402886) methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria
- dog(476145) methylmalonic aciduria and homocystinuria type D homolog, mitochondrial-like
- cow(521533) methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria
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Antibodies
Produktnummer
Beschreibung
Speziesreaktivität
Anwendung
Anti-MMADHC antibody produced in rabbit, Prestige Antibodies® Powered by Atlas Antibodies, affinity isolated antibody, buffered aqueous glycerol solution,
Speziesreaktivität
human
Anwendung
immunohistochemistry
western blot
western blot
Anti-MMADHC antibody produced in rabbit, Prestige Antibodies® Powered by Atlas Antibodies, affinity isolated antibody, buffered aqueous glycerol solution,
Speziesreaktivität
human
Anwendung
immunohistochemistry