ADAM23 belongs to the ADAM (A Disintegrin And Metalloproteinase domain) family of proteins. Members of this family present a common structural organization including metalloprotease, disintegrin, cystein-rich, epidermal growth factor-like, transmembrane and cytoplasmatic domains and are structurally related to snake venom disintegrins. ADAM23 has close similarity to ADAM11 and ADAM22; is highly expressed in the CNS, and is crucial for normal brain development. Mice homozygous for an insertional mutation that inactivates the gene are smaller than normal littermates, show delayed lung development, are lethal by postnatal day 14, and display severe tremor and ataxia. ADAM23 does not present metalloprotease activity and probably plays its biological role through the disintegrin domain. ADAM23 is involved in cell-cell adhesion and communication and cell-matrix modulation. The ADAM23 gene is frequently silenced by DNA promoter methylation in different types of solid cancers and epigenetic inactivation is associated with cancer progression, increased tumor cell mobility and reduced tumor cell proliferation.
NCBI: 8745 MIM: 603710 HGNC: 202 Ensembl: ENSG00000114948
dbSNP: 8745 ClinVar: 8745 TCGA: ENSG00000114948 COSMIC: ADAM23
Erico T Costa ; Anamaria A Camargo
ADAM23 (ADAM metallopeptidase domain 23)
Atlas Genet Cytogenet Oncol Haematol. 2014-09-01
Online version: http://atlasgeneticsoncology.org/gene/44041/css/lib/js/lib/img/logo-atlas-4.svg
2007-07-01 ADAM23 (ADAM metallopeptidase domain 23) by Marilia de Freitas Calmon,Paula Rahal  Affiliation