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Protein Page:
MMAA (human)

MMAA Probable GTPase. May function as chaperone. May be involved in the transport of cobalamin (Cbl) into mitochondria for the final steps of adenosylcobalamin (AdoCbl) synthesis. Defects in MMAA are the cause of methylmalonic aciduria type cblA (MMAA); also known as methylmalonic aciduria type A or vitamin B12-responsive methylmalonicaciduria of cblA complementation type. MMAA is a disorder of methylmalonate and cobalamin metabolism due to defective synthesis of adenosylcobalamin. Inheritance is autosomal recessive. Belongs to the ArgK family. Note: This description may include information from UniProtKB.
Protein type: Chaperone; EC 3.6.-.-
Chromosomal Location of Human Ortholog: 4q31.21
Cellular Component: mitochondrial matrix
Biological Process: cobalamin metabolic process; short-chain fatty acid catabolic process
Disease: Methylmalonic Aciduria, Cbla Type
Reference #:  Q8IVH4 (UniProtKB)
Alt. Names/Synonyms: cblA; methylmalonic aciduria (cobalamin deficiency) cblA type; methylmalonic aciduria type A; Methylmalonic aciduria type A protein, mitochondrial; MGC120010; MGC120011; MGC120012; MGC120013; MMAA
Gene Symbols: MMAA
Molecular weight: 46,538 Da
Basal Isoelectric point: 9.37  Predict pI for various phosphorylation states
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Protein Structure Not Found.
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