MMEL1
Chr 1membrane metalloendopeptidase like 1
Also known as: MMEL2, NEP2, NEPII, NL1, NL2, SEP
This gene encodes a membrane metalloprotease that degrades small peptides and is involved in sperm function and early embryonic development. Mutations cause autosomal recessive male infertility due to multiple morphological abnormalities of the flagella (MMAF), resulting in asthenozoospermia and reduced fertility. The gene shows no intolerance to loss-of-function variants in the general population, consistent with its reproductive-specific phenotype.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
The highest-scoring mechanism for this gene is gain-of-function.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
MMEL1 · 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
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools