Gene: ADAM30

Alternate names for this Gene: svph4

Gene Summary: 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 biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. This gene is testis-specific and contains a polymorphic region, resulting in isoforms with varying numbers of C-terminal repeats.

Gene is located in Chromosome: 1

Location in Chromosome : 1p12

Description of this Gene: ADAM metallopeptidase domain 30

Type of Gene: protein-coding

rs35273427 in ADAM30 gene and Breast Carcinoma PMID 29059683 2017 Association analysis identifies 65 new breast cancer risk loci.

rs2641348 in ADAM30 gene and Crohn Disease PMID 26192919 2015 Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.