Gene: ADAM22

Alternate names for this Gene: ADAM 22|EIEE61|MDC2

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. Unlike other members of the ADAM protein family, the protein encoded by this gene lacks metalloprotease activity since it has no zinc-binding motif. This gene is highly expressed in the brain and may function as an integrin ligand in the brain. In mice, it has been shown to be essential for correct myelination in the peripheral nervous system. Alternative splicing results in several transcript variants.

Gene is located in Chromosome: 7

Location in Chromosome : 7q21.12

Description of this Gene: ADAM metallopeptidase domain 22

Type of Gene: protein-coding

rs73202341 in ADAM22 gene and Body Height PMID 31564439 2019 Harmonizing Genetic Ancestry and Self-identified Race/Ethnicity in Genome-wide Association Studies.

rs747259064 in ADAM22 gene and EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 61 PMID 27066583 2016 Dysfunctional ADAM22 implicated in progressive encephalopathy with cortical atrophy and epilepsy.