Methylmalonic Aciduria (Cobalamin Deficiency) CblD Type, with Homocystinuria Proteins
MMADHC encodes a mitochondrial protein that is involved in an early step of vitamin B12 metabolism.
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Methylmalonic Aciduria (Cobalamin Deficiency) CblD Type, with Homocystinuria (MMADHC) (AA 39-296) protein (His tag) Protein
Methylmalonic Aciduria (Cobalamin Deficiency) CblD Type, with Homocystinuria (MMADHC) (AA 39-296) protein (His tag) Protein
Methylmalonic Aciduria (Cobalamin Deficiency) CblD Type, with Homocystinuria (MMADHC) (AA 1-296) protein (GST tag) Protein
Methylmalonic Aciduria (Cobalamin Deficiency) CblD Type, with Homocystinuria (MMADHC) (AA 39-296) protein (His tag) Protein
Methylmalonic Aciduria (Cobalamin Deficiency) CblD Type, with Homocystinuria (MMADHC) protein (Myc-DYKDDDDK Tag) Protein
Methylmalonic Aciduria (Cobalamin Deficiency) CblD Type, with Homocystinuria (MMADHC) Protein Protein
Methylmalonic Aciduria (Cobalamin Deficiency) CblD Type, with Homocystinuria (MMADHC) (AA 39-296) protein (His tag) Protein
Methylmalonic Aciduria (Cobalamin Deficiency) CblD Type, with Homocystinuria (MMADHC) Protein Profile
Protein 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.
Gene names and symbols associated with MMADHC
- methylmalonic aciduria and homocystinuria, cblD type (MMADHC) antibody
- methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria (Mmadhc) antibody
- methylmalonic aciduria and homocystinuria, cblD type (Mmadhc) antibody
- 2010311D03Rik antibody
- AI314967 antibody
- C2orf25 antibody
- cblD antibody
- CL25022 antibody
- RGD1303272 antibody
Protein level used designations for MMADHC
methylmalonic aciduria and homocystinuria type D homolog, mitochondrial , methylmalonic aciduria and homocystinuria type D protein, mitochondrial , protein C2orf25, mitochondrial , likely ortholog of H. sapiens chromosome 2 open reading frame 25 (C2orf25)
GENE ID | SPECIES |
---|---|
424311 | Gallus gallus |
27249 | Homo sapiens |
109129 | Mus musculus |
362134 | Rattus norvegicus |
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