MMAA metabolism of cobalamin associated A [Homo sapiens (human)] - Gene

Summary

Official Symbol: MMAAprovided by HGNC
Official Full Name: metabolism of cobalamin associated Aprovided by HGNC
Primary source: HGNC:HGNC:18871
See related: Ensembl:ENSG00000151611 MIM:607481; AllianceGenome:HGNC:18871
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: cblA
Summary: 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]
Expression: Ubiquitous expression in liver (RPKM 3.7), kidney (RPKM 2.7) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 4q31.21

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	4	NC_000004.12 (145619385..145660033)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	4	NC_060928.1 (148935202..148975850)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	4	NC_000004.11 (146540537..146581185)

Chromosome 4 - NC_000004.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The two siblings were associated with the MMAA c.365T>C variant.
Title: Mild clinical features of isolated methylmalonic acidemia associated with a novel variant in the MMAA gene in two Chinese siblings.
localization of hMMAA and its colocalization with hMCM in human
Title: Human MMAA induces the release of inactive cofactor and restores methylmalonyl-CoA mutase activity through their complex formation.
A novel deletion in the MMAA gene in two Iranian siblings with vitamin B12-responsive methylmalonic academia was identified. The deletion in exon 4 of the MMAA gene (c.674 delA) is a pathogenic allele via a nucleotide frame shift resulting in a stop codon and termination of protein synthesis 38 nucleotides (12 amino acids) downstream of the deletion.
Title: Identification of a novel deletion in the MMAA gene in two Iranian siblings with vitamin B12-responsive methylmalonic acidemia.
Ten novel mutational MMAA variants have been identified in patients with methylmalonic aciduria.
Title: High resolution melting analysis of the MMAA gene in patients with cblA and in those with undiagnosed methylmalonic aciduria.
MMAA acts as a chaperone of human MCM protein.
Title: Protection and reactivation of human methylmalonyl-CoA mutase by MMAA protein.
Structures of the human GTPase MMAA and vitamin B12-dependent methylmalonyl-CoA mutase and insight into their complex formation.
Title: Structures of the human GTPase MMAA and vitamin B12-dependent methylmalonyl-CoA mutase and insight into their complex formation.
Spondylocostal dysostosis associated with MMAA is presented in a young boy.
Title: Spondylocostal dysostosis associated with methylmalonic aciduria.
Methylmalonic acidaemia: examination of genotype and biochemical data in 32 patients belonging to mut, cblA or cblB complementation group.
Title: Methylmalonic acidaemia: examination of genotype and biochemical data in 32 patients belonging to mut, cblA or cblB complementation group.
Long-term outcome in methylmalonic acidurias is influenced by the underlying genetic defects in MCM/MMAA/MMAB.
Title: Long-term outcome in methylmalonic acidurias is influenced by the underlying defect (mut0, mut-, cblA, cblB).
DNA from 37 cblA patients was analyzed for deleterious mutations in the MMAA gene by DNA sequencing of exons and flanking sequences
Title: Mutations in the MMAA gene in patients with the cblA disorder of vitamin B12 metabolism.

Submit: New GeneRIF Correction See all GeneRIFs (12)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Methylmalonic aciduria, cblA type MedGen: C1855109 OMIM: 251100 GeneReviews: Isolated Methylmalonic Acidemia	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

PMC137755P2 (e-PCR)
- UniSTS:270848

PMC137755P3 (e-PCR)
- UniSTS:270849

PMC137755P4 (e-PCR)
- UniSTS:270850

PMC137755P5 (e-PCR)
- UniSTS:270851

PMC137755P6 (e-PCR)
- UniSTS:270852

SHGC-59313 (e-PCR)
- UniSTS:81694

AI840684 (e-PCR)
- UniSTS:164131

G20310 (e-PCR)
- UniSTS:27697

A005L23 (e-PCR)
- UniSTS:27698

SHGC-59790 (e-PCR)
- UniSTS:71738

SGC32504 (e-PCR)
- UniSTS:67905

NoName (e-PCR)
- UniSTS:482634

RH98423 (e-PCR)
- UniSTS:85622

NoName (e-PCR)
- UniSTS:481148

A006R31 (e-PCR)
- UniSTS:46724

RH35812 (e-PCR)
- UniSTS:4817

PMC137755P1 (e-PCR)
- UniSTS:270847

Clone Names

MGC120010, MGC120011, MGC120012, MGC120013

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables GTP binding	IDA Inferred from Direct Assay more info	PubMed
enables GTPase activity	IBA Inferred from Biological aspect of Ancestor more info
enables GTPase activity	IDA Inferred from Direct Assay more info	PubMed
enables GTPase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables identical protein binding	IDA Inferred from Direct Assay more info	PubMed
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables membrane scission GTPase motor activity	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in cobalamin metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in cobalamin metabolic process	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info
located_in mitochondrial matrix	TAS Traceable Author Statement more info
located_in mitochondrion	HTP more info	PubMed
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: methylmalonic aciduria type A protein, mitochondrial

Names: methylmalonic aciduria (cobalamin deficiency) cblA type; mutant adenosylcobalamin

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_007536.2 RefSeqGene

Range

25344..65992

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GenBank, FASTA, Sequence Viewer (Graphics), LRG_1301

mRNA and Protein(s)

NM_001375644.1 → NP_001362573.1 methylmalonic aciduria type A protein, mitochondrial precursor

Status: REVIEWED

Source sequence(s)

AC093864

Consensus CDS

CCDS3766.1

UniProtKB/Swiss-Prot

B3KX40, Q495G7, Q8IVH4

UniProtKB/TrEMBL

Q495G5

Related

ENSP00000497046.1, ENST00000648388.1

Conserved Domains (1) summary

PRK09435
Location:86 → 418

PRK09435; methylmalonyl Co-A mutase-associated GTPase MeaB
NM_172250.3 → NP_758454.1 methylmalonic aciduria type A protein, mitochondrial precursor

See identical proteins and their annotated locations for NP_758454.1

Status: REVIEWED

Source sequence(s)

AC093864, AK126662

Consensus CDS

CCDS3766.1

UniProtKB/Swiss-Prot

B3KX40, Q495G7, Q8IVH4

UniProtKB/TrEMBL

Q495G5

Related

ENSP00000497008.1, ENST00000649156.2

Conserved Domains (1) summary

PRK09435
Location:86 → 418

PRK09435; methylmalonyl Co-A mutase-associated GTPase MeaB

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000004.12 Reference GRCh38.p14 Primary Assembly

Range

145619385..145660033

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011531684.4 → XP_011529986.1 methylmalonic aciduria type A protein, mitochondrial isoform X1

See identical proteins and their annotated locations for XP_011529986.1

UniProtKB/Swiss-Prot

B3KX40, Q495G7, Q8IVH4

UniProtKB/TrEMBL

Q495G5

Conserved Domains (1) summary

PRK09435
Location:86 → 418

PRK09435; methylmalonyl Co-A mutase-associated GTPase MeaB