ADAM7

Chr 8

ADAM metallopeptidase domain 7

Also known as: ADAM 7, ADAM-7, EAPI, GP-83, GP83

NCBI Gene: 8756 ENSG00000069206 UniProt: Q9H2U9

The protein is a non-catalytic member of the ADAM family of zinc proteases that is required for normal male fertility by maintaining epithelial cell morphology in the epididymis and playing a role in sperm motility and capacitation. Mutations in this gene may be involved in melanoma progression, though no established Mendelian pediatric neurological disorders are currently associated with ADAM7 variants. The gene shows no constraint against loss-of-function variants (very low pLI score), suggesting haploinsufficiency is unlikely to cause disease.

ResearchSummary from RefSeq, UniProt

This gene encodes a member of the ADAMs family of zinc proteases. These transmembrane proteins play roles in multiple processes including cell signaling, adhesion and migration. The encoded protein lacks protease activity and may play roles in protein-protein interactions and cell adhesion processes including sperm-egg fusion. Mutations in this gene may be involved in the progression of melanoma. [provided by RefSeq, Oct 2011]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.03

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)