MMACHC gene homepage

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 NG_013378.1
Transcript reference NM_015506.2
Associated with diseases ID, aciduria, methylmalonic, and homocystinuria, cblC type
Citation reference(s) -
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 38
Unique public DNA variants reported 25
Individuals with public variants 2
Hidden variants 0
Notes The establishment of this gene variant database (LSDB) was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement nÂș 200754 - the GEN2PHEN project.
Date created April 05, 2011
Date last updated June 28, 2019
Version MMACHC:190628

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
External URL Orphanet
HGNC 24525
Entrez Gene 25974
PubMed articles MMACHC
OMIM - Gene 609831
OMIM - Diseases aciduria, methylmalonic, and homocystinuria, cblC type
GeneCards MMACHC
GeneTests MMACHC

Active transcripts




NCBI ID     

NCBI Protein ID     

00000041 1 methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria NM_015506.2 NP_056321.2 38

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