methylmalonic aciduria type A protein, mitochondrial (MMAA)

Function

• probable GTPase
• may function as chaperone
• may be involved in the transport of cobalamin into mitochondria for the final steps of adenosylcobalamin synthesis
• cofactor biosynthesis; adenosylcobalamin biosynthesis
• homodimer

Structure

belongs to the ArgK family

Compartment

mitochondria (probable)

Expression

• widely expressed
• highest expression is observed in liver & skeletal muscle

Pathology

• defects in MMAA are the cause of methylmalonic aciduria type A

More general terms

• mitochondrial protein
• chaperonin; chaperone

Additional terms

• adenosylcobalamin; cobamamide (vitamin B12)
• methylmalonic acidemia/aciduria

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=166785
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:166785
• OMIM: https://mirror.omim.org/entry/251100
• OMIM: https://mirror.omim.org/entry/607481
• UniProt: http://www.uniprot.org/uniprot/Q8IVH4.html