MMACHC

metabolism of cobalamin associated C

Associated Studies

Uncovering the genetic architecture of ME/CFS: a precision approach reveals impact of rare monogenic variation

2025 | Birch et al.

Phenotype: ME/CFS, Post-exertional malaise (PEM)

Details

HGNC: 24525
GeneCards: MMACHC
NCBI: 25974
Ensembl: ENSG00000132763
UniProt: Q9Y4U1
OMIM: 609831
UCSC: uc009vxv.4
VEGA: OTTHUMG00000007742
ENA: None
Alias Symbols: DKFZP564I122, cblC
Previous Symbols: None
Alias Names: None
Previous Names: "methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria"