| Gene Symbol |
MMADHC
|
| Entrez Gene |
27249
|
| Alt Symbol |
C2orf25, CL25022, cblD
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria
|
| Other Description |
methylmalonic aciduria and homocystinuria type D protein, mitochondrial|protein C2orf25, mitochondrial
|
| Swissprots |
D3DP91 B2R895 O95891 Q9H3L0
|
| Accessions |
AAY14891 EAX11533 EAX11534 EAX11535 EAX11536 EAX11537 Q9H3L0 AA857973 AF060224 AAG43124 AF131802 AAD20048 AF161510 AAF29125 AK310001 AK313284 BAG36092 BC000932 AAH00932 BC010894 AAH10894 BC022859 AAH22859 BC023995 AAH23995 BG610637 BM456421 BU570084 NM_015702 NP_056517
|
| Function |
Involved in cobalamin metabolism. {ECO:0000269|PubMed:18385497}.
|
| Subcellular Location |
Cytoplasm {ECO:0000269|PubMed:23270877}. Mitochondrion {ECO:0000269|PubMed:23270877}.
|
| Tissue Specificity |
Widely expressed at high levels. {ECO:0000269|PubMed:18385497}.
|