MMAA

Chr 4

metabolism of cobalamin associated A

ENSG00000151611UniProt: Q9GIP4
0
ClinVar variants
0
Pathogenic / LP
0.00
pLI score
0
Active trials
Clinical Summary— MMAA
🧬
Gene-Disease Validity (ClinGen)
methylmalonic aciduria, cblA type · ARDefinitive

Definitive — sufficient evidence for diagnostic panels

⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
Some data sources returned errors (2)

ncbi: Error: NCBI fetch failed: 429 https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
1.29LOEUF
pLI 0.000
Z-score 0.49
OE 0.89 (0.62–1.29)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
0.33Z-score
OE missense 0.94 (0.84–1.05)
209 obs / 222.9 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.89 (0.62–1.29)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.94 (0.84–1.05)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.0.98
0≤1.21.6
LoF obs/exp: 20 / 22.5Missense obs/exp: 209 / 222.9Syn Z: 0.13

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

MMAA · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Gene2Phenotype Curations

MMAA-related methylmalonic aciduria

definitive
ARLoss Of FunctionAbsent Gene Product
Dev. Disorders
G2P ↗

Gene2Phenotype curations · DECIPHER consortium patient cohort (public variants) · deciphergenomics.org

OMIM — Genotype-Phenotype

OMIM

No OMIM entries found.

📖
GeneReview available — MMAA
Authoritative clinical overview · NCBI Bookshelf · Recommended first read
Open GeneReview ↗
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Deciphering the effect of mutations in MMAA protein causing methylmalonic acidemia-A computational approach.
Madhana Priya N et al.·Adv Protein Chem Struct Biol
2022
Crystal structures of Mycobacterial MeaB and MMAA-like GTPases.
Edwards TE et al.·J Struct Funct Genomics
2015
Mild clinical features of isolated methylmalonic acidemia associated with a novel variant in the MMAA gene in two Chinese siblings.
Lin Y et al.·BMC Med Genet
2018
Medication Management Performance in Parkinson's Disease: Examination of Process Errors.
Sumida CA et al.·Arch Clin Neuropsychol
2021
Clinical and Molecular Spectrum of Patients with Methylmalonic Acidemia.
Gupta N et al.·Indian J Pediatr
2024Cohort
Evidence for the reliability and validity of a Spanish translation of the Medication Management Ability Assessment administered via tele-assessment.
Garcia JM et al.·Appl Neuropsychol Adult
2024
The Clinical Utility and Ecological Validity of the Medication Management Ability Assessment in Older Adults with and without Dementia.
Margolis SA et al.·Arch Clin Neuropsychol
2021
The complementary utility of cognitive testing and the medication management ability assessment in older adults.
Hallowell ES et al.·Neuropsychology
2022
[Analysis of 12 cases with methylmalonicacidemia cblA type].
E H et al.·Zhonghua Yi Xue Yi Chuan Xue Za Zhi
2020Cohort
Mutations in the MMAA gene in patients with the cblA disorder of vitamin B12 metabolism.
Lerner-Ellis JP et al.·Hum Mutat
2004Cohort
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools