ADAM18 Chromosome 8

ADAM metallopeptidase domain 18
1 variant 1 Health Risk

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What This Gene Does
This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biologic processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The encoded preproprotein is proteolytically processed to generate the mature sperm surface protein. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Feb 2016]
Gene Info
Gene Group
ADAM metallopeptidase domain containing
Locus Type
gene with protein product
Location
8p11.22
Ensembl
ENSG00000168619
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS199835295 Health Risk Conflicting classifications of pathogenicity
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