PITRM1

Chr 10

pitrilysin metallopeptidase 1

Also known as: MP1, PreP, SCAR30

NCBI Gene: 10531ENSG00000107959UniProt: Q5JRX3

The protein encoded by this gene is an ATP-dependent metalloprotease that degrades post-cleavage mitochondrial transit peptides. The encoded protein binds zinc and can also degrade amyloid beta A4 protein, suggesting a possible role in Alzheimer's disease. [provided by RefSeq, Dec 2016]

ResearchGenerating clinical summary…
LOEUF 0.94
Clinical Summary— PITRM1
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
💊
Clinical Trials
1 active or recruiting trial — potential therapeutic options may be available
Explore recent and relevant literature in Research Assistant →
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?
0.94LOEUF
pLI 0.000
Z-score 1.93
OE 0.72 (0.56–0.94)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
-0.84Z-score
OE missense 1.10 (1.03–1.17)
653 obs / 595.5 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.72 (0.56–0.94)
0≤0.351.4
Missense OE?1.10 (1.03–1.17)
0≤0.61.4
Synonymous OE?1.22
0≤1.21.6
LoF obs/exp: 40 / 55.5Missense obs/exp: 653 / 595.5Syn Z: -2.68

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

PITRM1 · protein map & ClinVar variants

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

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