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methylmalonic aciduria & homocystinuria type C protein (MMACHC)
Function:
- role in binding & intracellular trafficking of cobalamin (vitamin B12)
- cobalamin utilization pathway
Structure: belongs to the MMACHC family
Expression:
- widely expressed
- expressed at higher level in fetal liver
- expressed in spleen, lymph node, thymus, bone marrow
- weakly or not expressed in peripheral blood leukocytes
Pathology:
- defects in MMACHC are the cause of methylmalonic aciduria & homocystinuria, cblC type
General
other protein
Properties
SIZE: MW = 32 kD
entity length = 282 aa
Database Correlations
OMIM 277400
UniProt Q9Y4U1
References
UniProt :accession Q9Y4U1