Tbio MMAA Methylmalonic aciduria type A protein, mitochondrial

Protein Summary

Description

GTPase, binds and hydrolyzes GTP (PubMed:28497574, PubMed:20876572). Involved in intracellular vitamin B12 metabolism, mediates the transport of cobalamin (Cbl) into mitochondria for the final steps of adenosylcobalamin (AdoCbl) synthesis. Functions as a G-protein chaperone that assists AdoCbl cofactor delivery from MMAB to the methylmalonyl-CoA mutase (MUT) and reactivation of the enzyme during catalysis (PubMed:28497574, PubMed:20876572). The protein encoded by this gene is involved in the translocation of cobalamin into the mitochondrion, where it is used in the final steps of adenosylcobalamin synthesis. Adenosylcobalamin is a coenzyme required for the activity of methylmalonyl-CoA mutase. Defects in this gene are a cause of methylmalonic aciduria. [provided by RefSeq, Jul 2008]

Uniprot Accession IDs

• Q8IVH4
• B3KX40
• Q495G7

Gene Name

• MMAA

Ensembl ID

• ENST00000281317
• ENSP00000281317
• ENSG00000151611
• ENST00000648388
• ENSP00000497046
• ENST00000649156
• ENSP00000497008
• ENST00000649704
• ENSP00000497680

Symbol

• cblA

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
histone modification site profile	0.92
transcription factor binding site profile	0.86
pathway	0.85
molecular function	0.79
virus perturbation	0.79

Protein Classes

No PANTHER Classes or DTO Classes found

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 132.91   (req: < 5)

Gene RIFs: 12   (req: <= 3)

Antibodies: 138   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 132.91   (req: >= 5)

Gene RIFs: 12   (req: > 3)

Antibodies: 138   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 6

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0