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DEE61

Chr 7AR

ADAM metallopeptidase domain 22

Also known as: ADAM 22, DEE61, EIEE61, MDC2

NCBI Gene: 53616 OMIM: 617933

This gene encodes an ADAM family protein that lacks metalloprotease activity and functions as an integrin ligand in the brain, essential for correct peripheral nervous system myelination. Mutations cause developmental and epileptic encephalopathy 61, an autosomal recessive condition affecting both neurological development and seizure control. The phenotype involves the central nervous system with developmental delays and epilepsy as core features.

OMIM ResearchSummary from RefSeq, OMIM

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.[provided by RefSeq, Dec 2010]

OMIM ResearchGenerating clinical summary…

AR1 OMIM phenotype

Clinical Summary— DEE61

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Some data sources returned errors (2)

ensembl: Error: Ensembl fetch failed: 400 for /lookup/symbol/homo_sapiens/DEE61?content-type=application/json&expand=1

gnomad: Error: Gene not found