MMAA report

I. Expression across cell types

Insufficient scRNA-seq data for expression of MMAA at single-cell level.

II. Expression across tissues

sc-RNAseq data

Insufficient scRNA-seq data for expression of MMAA at tissue level.

III. Associated gene sets

GO_0009235Biological processcobalamin metabolic process
GO_0005829Cellular componentcytosol
GO_0005759Cellular componentmitochondrial matrix
GO_0005737Cellular componentcytoplasm
GO_0005739Cellular componentmitochondrion
GO_0005525Molecular functionGTP binding
GO_0042803Molecular functionprotein homodimerization activity
GO_0003924Molecular functionGTPase activity
GO_0042802Molecular functionidentical protein binding
GO_0005515Molecular functionprotein binding

IV. Literature review

[source]
Gene nameMMAA
Protein nameMetabolism of cobalamin associated A
MMAA protein
Methylmalonic aciduria type A protein, mitochondrial (EC 3.6.-.-)
MMAA protein (Methylmalonic aciduria type A protein, mitochondrial)
Mutant adenosylcobalamin
Synonyms
DescriptionFUNCTION: GTPase, binds and hydrolyzes GTP . 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 (MMUT) . Plays a dual role as both a protectase and a reactivase for MMUT . Protects MMUT from progressive inactivation by oxidation by decreasing the rate of the formation of the oxidized inactive cofactor hydroxocobalamin (OH2Cbl) . Additionally acts a reactivase by promoting the replacement of OH2Cbl by the active cofactor AdoCbl, restoring the activity of MMUT in the presence and hydrolysis of GTP . .

AccessionsENST00000679563.1
A0A0G3I9X5
ENST00000649704.1
Q8IVH4
A0A7P0TAV9
ENST00000679930.1
D6RIS5
ENST00000511969.4
Q495G5
ENST00000541599.5
ENST00000541599
Q495G6
A0A3B3ITP4
ENST00000649173.1
ENST00000649156.2
ENST00000648388.1
ENST00000647947.1
A0A3B3IRG3