ADAM23

Chr 2

ADAM metallopeptidase domain 23

Also known as: MDC-3, MDC3

NCBI Gene: 8745 ENSG00000114948 OMIM: 603710

ADAM23 encodes a non-catalytic membrane-anchored metalloprotease involved in cell-cell and cell-matrix interactions during neurogenesis and muscle development. Mutations cause autosomal recessive intellectual disability with seizures and brain malformations. The phenotype involves the central nervous system with early childhood onset of developmental delays and epilepsy.

OMIM ResearchSummary from RefSeq, UniProt

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. It is reported that inactivation of this gene is associated with tumorigenesis in human cancers. [provided by RefSeq, May 2013]

OMIM ResearchGenerating clinical summary…

LOEUF 0.28

Clinical Summary— ADAM23

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Population Constraint (gnomAD)

Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 1.00). One damaged copy is likely sufficient to cause disease.

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