Metabolism of Cobalamin Associated C

Alternative Names

  • MMACHC
Back to search Result
OMIM Number

609831

NCBI Gene ID

25974

Uniprot ID

Q9Y4U1

Length

13,199 bases

No. of Exons

4

No. of isoforms

1

Protein Name

Methylmalonic aciduria and homocystinuria type C protein

Molecular Mass

31728 Da

Amino Acid Count

282

Genomic Location

chr1:45,500,184-45,513,382

Gene Map Locus
1p34.1

Description

The MMACHC gene is located on 1p34.1 chromosome. The protein encoded by this gene comprises 282 amino acids, and weighs approximately 32 kDa. The exact function of this protein is not known. It may play a role in the binding and intracellular trafficking of cobalamin (vitamin B12).

Defects in this protein are responsible for methylmalonic aciduria and homocystinuria type cblC disorder, characterized by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl). Affected patients may have developmental, hematologic, neurologic, metabolic, ophthalmologic, and dermatologic clinical findings.

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_015506.3:c.271dupLebanon; United Arab E...NC_000001.11:g.45507545dupPathogenic, Uncertain SignificanceLikely Pathogenic, PathogenicMethylmalonic Aciduria and Homocystinuria, cblC TypeNG_013378.1:g.12362dup; NM_015506.3:c.271dup; NP_056321.2:p.Arg91LysfsTer143981242921421
© CAGS 2024. All rights reserved.