MAIP1

Chr 2

matrix AAA peptidase interacting protein 1

Also known as: C2orf47

NCBI Gene: 79568ENSG00000162972UniProt: Q8WWC4

Predicted to enable ribosome binding activity. Involved in calcium import into the mitochondrion; mitochondrial calcium ion homeostasis; and protein insertion into mitochondrial membrane. Located in mitochondrial matrix. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
0
Active trials
1
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.28
LOEUF
DN
Mechanism· predicted
Some data sources returned errors (1)

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?
1.28LOEUF
pLI 0.000
Z-score 0.82
OE 0.76 (0.47–1.28)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.68Z-score
OE missense 0.85 (0.73–0.98)
131 obs / 154.8 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.76 (0.47–1.28)
0≤0.351.4
Missense OE?0.85 (0.73–0.98)
0≤0.61.4
Synonymous OE?0.98
0≤1.21.6
LoF obs/exp: 10 / 13.2Missense obs/exp: 131 / 154.8Syn Z: 0.11

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

MAIP1 · protein map & ClinVar variants

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

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

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients