View MMAA gene homepage

General information
Gene symbol MMAA
Gene name methylmalonic aciduria (cobalamin deficiency) cblA type
Chromosome 4
Chromosomal band q31.1
Imprinted Unknown
Genomic reference NG_007536.1
Transcript reference NM_172250.2
Associated with diseases ID, aciduria, methylmalonic, cblA type
Citation reference(s) -
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 2
Unique public DNA variants reported 2
Individuals with public variants 1
Hidden variants 0
Date created May 03, 2013

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
HGNC 18871
Entrez Gene 166785
PubMed articles MMAA
OMIM - Gene 607481
OMIM - Diseases aciduria, methylmalonic, cblA type

Active transcripts




NCBI ID     

NCBI Protein ID     

00013701 4 methylmalonic aciduria (cobalamin deficiency) cblA type NM_172250.2 NP_758454.1 2