MMACHC

metabolism of cobalamin associated C

Details

HGNC: 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"

Associated Studies

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

2025 | Birch, Camille L.; Wilk, Brandon M.; Gajapathy, Manavalan; Hutchins, Shaurita D.; Kaur, Gurpreet; Brown, Donna M.; Mamidi, Tarun K. K.; Hodgin, Kathleen S.; Turgut, Alp; Younger, Jarred W.; Worthey, Elizabeth A.

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