MEP1A

Chr 6

meprin A subunit alpha

Also known as: PPHA

NCBI Gene: 4224ENSG00000112818UniProt: Q16819

Enables metallodipeptidase activity. Acts upstream of or within epidermal growth factor receptor ligand maturation. Located in extracellular exosome. Part of meprin A complex. Is active in plasma membrane. [provided by Alliance of Genome Resources, Jun 2026]

ResearchGenerating clinical summary…
0
Active trials
7
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.92
LOEUF
Multiple*
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?
0.92LOEUF
pLI 0.000
Z-score 1.96
OE 0.66 (0.48–0.92)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.13Z-score
OE missense 0.98 (0.91–1.07)
406 obs / 413.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.66 (0.48–0.92)
0≤0.351.4
Missense OE?0.98 (0.91–1.07)
0≤0.61.4
Synonymous OE?1.12
0≤1.21.6
LoF obs/exp: 25 / 38.0Missense obs/exp: 406 / 413.3Syn Z: -1.20

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

MEP1A · 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