MMACHC gene homepage

MSeqDR-LSDB: Mitochondrial Disease LSDB
General information
Gene symbol MMACHC
Gene name methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
Chromosome 1
Chromosomal band p34.1
Imprinted Unknown
Genomic reference NC_000001.10
Transcript reference NM_015506.2
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 24525
Entrez Gene 25974
PubMed articles MMACHC
OMIM - Gene 609831
HGMD MMACHC
GeneCards MMACHC
GeneTests MMACHC


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000898 1 methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria NM_015506.2 NP_056321.2 0


Copyright & disclaimer
; NuclearMitome http://www.transgenomic.com ; MitoCarta http://www.broadinstitute.org/pubs/MitoCarta/

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium