MMADHC gene homepage

MSeqDR-LSDB: Mitochondrial Disease LSDB
General information
Gene symbol MMADHC
Gene name methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria
Chromosome 2
Chromosomal band q23
Imprinted Unknown
Genomic reference NC_000002.11
Transcript reference NM_015702.2
Associated with diseases -
Citation reference(s) -
Curators (0) -
Total number of public variants reported 0
Unique public DNA variants reported 0
Individuals with public variants 0
Hidden variants 0
Download all this gene's data Download all data
Notes MSeqDR-LSDB
Date created November 12, 2013

Links to other resources
HGNC 25221
Entrez Gene 27249
PubMed articles MMADHC
OMIM - Gene 611935
HGMD MMADHC
GeneCards MMADHC
GeneTests MMADHC


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000899 2 methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria NM_015702.2 NP_056517.1 0


Copyright & disclaimer
; NuclearMitome http://www.transgenomic.com

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium