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

More general terms

• other protein

Database

• OMIM: https://mirror.omim.org/entry/277400
• UniProt: http://www.uniprot.org/uniprot/Q9Y4U1.html