methylmalonic aciduria type B protein; cob(I)yrinic acid a,c-diamide adenosyltransferase, mitochondrial; cob(I)alamin adenosyltransferase (MMAB)

Function

• cofactor biosynthesis; adenosylcobalamin biosynthesis
• adenosylcobalamin from cob(II)yrinate a,c-diamide: step 2/7
• homotrimer

Structure

• belongs to the cob(I)alamin adenosyltransferase family

Compartment

mitochondria (probable)

Expression

expressed in liver & skeletal muscle

Pathology

• defects in MMAB are the cause of methylmalonic aciduria type B

More general terms

• mitochondrial protein
• transferase

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=326625
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:326625
• OMIM: https://mirror.omim.org/entry/251110
• OMIM: https://mirror.omim.org/entry/607568
• UniProt: http://www.uniprot.org/uniprot/Q96EY8.html