MMACHC
Sign in to saveAlso known as cblC, methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria, metabolism of cobalamin associated C
Methylmalonic aciduria and homocystinuria type C protein (MMACHC) is a protein that in humans is encoded by the MMACHC gene.
Gene data
MMACHC- Name
- metabolism of cobalamin associated C
- Type
- protein-coding
- Aliases
- cblC
The exact function of the protein encoded by this gene is not known, however, its C-terminal region shows similarity to TonB, a bacterial protein involved in energy transduction for cobalamin (vitamin B12) uptake. Hence, it is postulated that this protein may have a role in the binding and intracellular trafficking of cobalamin. Mutations in this gene are associated with methylmalonic aciduria and homocystinuria type cblC. [provided by RefSeq, Oct 2009].
via MyGene.info
Gene · Ensembl
metabolism of cobalamin associated C
- Symbol
- MMACHC
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 1:45,500,186-45,513,382
- Strand
- Forward (+)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
- Instance of
- gene
Show 7 more facts
- HomoloGene ID
- 12082
- found in taxon
- Homo sapiens
- exact match
- identifiers.org/ncbigene/25974
- genomic end
- 45976739
- genomic start
- 45500300
- chromosome
- human chromosome 1
- cytogenetic location
- 1p34.1
via Wikidata · CC0
~1 min read
Encyclopedic overview
5 sectionsContents
- Function
- Clinical significance
- References
- Further reading
- External links
Methylmalonic aciduria and homocystinuria type C protein (MMACHC) is a protein that in humans is encoded by the MMACHC gene.
== Function ==
Excerpted from Wikipedia’s “MMACHC” article, available under the CC BY-SA 4.0 licence.