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IMD133

Chr 6AD

inositol 1,4,5-trisphosphate receptor type 3

Also known as: CMT1J, IMD132, IMD133, IP3R, IP3R-3, IP3R3

NCBI Gene: 3710 OMIM: 621254

This gene encodes a receptor for inositol 1,4,5-trisphosphate that mediates intracellular calcium release through its calcium channel. Mutations cause immunodeficiency 133 with ectodermal dysplasia with or without peripheral neuropathy, affecting multiple organ systems including immune function, skin and its appendages, and potentially the peripheral nervous system. The condition follows an autosomal dominant inheritance pattern.

OMIM ResearchSummary from RefSeq, OMIM

This gene encodes a receptor for inositol 1,4,5-trisphosphate, a second messenger that mediates the release of intracellular calcium. The receptor contains a calcium channel at the C-terminus and the ligand-binding site at the N-terminus. Knockout studies in mice suggest that type 2 and type 3 inositol 1,4,5-trisphosphate receptors play a key role in exocrine secretion underlying energy metabolism and growth. [provided by RefSeq, Aug 2010]

OMIM ResearchGenerating clinical summary…

AD1 OMIM phenotype

Clinical Summary— IMD133

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Some data sources returned errors (2)

ensembl: Error: Ensembl fetch failed: 400 for /lookup/symbol/homo_sapiens/IMD133?content-type=application/json&expand=1

gnomad: Error: Gene not found