The MMADHC gene homepage
| General information |
| Gene symbol |
MMADHC |
| Gene name |
methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria |
| Chromosome |
2 |
| Chromosomal band |
q23 |
| Imprinted |
- |
| Genomic reference |
NG_009189.1 |
| Transcript reference |
NM_015702.2 |
| Associated with diseases |
WD |
| Citation reference(s) |
Pan M et al, 2011
Zhang T et al, 2010 |
| Refseq URL |
Coding DNA reference sequence |
| Curators (0) |
- |
| Total number of public variants reported |
54 |
| Unique public DNA variants reported |
45 |
| Individuals with public variants |
0 |
| Hidden variants |
- |
| Notes |
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]
Also known as: cblD; C2orf25; CL25022 |
| Date created |
April 29, 2013 |
Active transcripts
| Copyright & disclaimer |
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