IP3R-I Polyclonal Antibody, 20ul[BT-AP04604] Bio-Reaction Tube hydroxysteroid 11-beta dehydrogenase 1(HSD11B1) Homo

hydroxysteroid 11-beta dehydrogenase 1(HSD11B1) Homo sapiens The protein encoded by this gene is a microsomal enzyme that catalyzes the conversion of the stress hormone cortisol to the inactive metabolite cortisone

including roles in the differentiation and arrangement of tissue three-dimensional structure

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Mutations in this gene are associated with lipoid proteinosis disorder (also known as hyalinosis cutis et mucosae or Urbach-Wiethe disease) that is characterized by generalized thickening of skin

GO annotations related to this gene include protein kinase binding

IP3R-I Polyclonal Antibody, 20ul[BT-AP04604] Bio-Reaction Tube hydroxysteroid 11-beta dehydrogenase 1(HSD11B1) HomoITPR1 (inositol 1,4,5 trisphosphate receptor type 1) encodes an intracellular receptor for inositol 1,4,5 trisphosphate. Upon stimulation by inositol 1,4,5 trisphosphate, this receptor mediates calcium release from the endoplasmic reticulum. Mutations in ITPR1 cause spinocerebellar ataxia type 15, a disease associated with an heterogeneous group of cerebellar disorders. Multiple transcript variants have been identified for ITPR1.