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c erbB 3
Erb b2 receptor tyrosine kinase 3
Glial growth factor receptor
Human epidermal growth factor receptor 3
MDA BF 1
proto-oncogene-like protein c ErbB 3
proto-oncogene-like protein c ErbB3
Proto-oncogene-like protein c-ErbB-3
Receptor tyrosine protein kinase erbB 3
Receptor tyrosine protein kinase erbB3
Receptor tyrosine-protein kinase erbB-3
Tyrosine kinase type cell surface receptor HER3
Tyrosine kinase-type cell surface receptor HER3
v erb b2 avian erythroblastic leukemia viral oncogene homolog 3
v erb b2 erythroblastic leukemia viral oncogene homolog 3
v erb b2 erythroblastic leukemia viral oncogene homolog 3 (avian)
機能Binds and is activated by neuregulins and NTAK.
組織特異性Epithelial tissues and brain.
関連疾患Defects in ERBB3 are the cause of lethal congenital contracture syndrome type 2 (LCCS2) [MIM:607598]; also called Israeli Bedouin multiple contracture syndrome type A. LCCS2 is an autosomal recessive neurogenic form of a neonatally lethal arthrogryposis that is associated with atrophy of the anterior horn of the spinal cord. The LCCS2 syndrome is characterized by multiple joint contractures, anterior horn atrophy in the spinal cord, and a unique feature of a markedly distended urinary bladder. The phenotype suggests a spinal cord neuropathic etiology.
配列類似性Belongs to the protein kinase superfamily. Tyr protein kinase family. EGF receptor subfamily. Contains 1 protein kinase domain.
発生段階Overexpressed in a subset of human mammary tumors.
ドメインThe cytoplasmic part of the receptor may interact with the SH2 or SH3 domains of many signal-transducing proteins.
翻訳後修飾Ligand-binding increases phosphorylation on tyrosine residues and promotes its association with the p85 subunit of phosphatidylinositol 3-kinase.