ERBB3
MIM.190151 12q13
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ERBB3 (Her3) is an activator of the phosphatidylinositol-3-kinase/Akt pathway—regulating cell survival and vesicle trafficking.
It is essential for the generation of precursors of Schwann cells that normally accompany peripheral axons of motor neurons.
Pathology
loss of function germline mutations in lethal congenital contractural syndrome type 2 (LCCS2)
- Lethal congenital contractural syndrome type 2 (LCCS2) is an autosomal recessive neurogenic form of arthrogryposis that is associated with atrophy of the anterior horn of the spinal cord.
NB: Gain-of-function mutations in members of the epidermal growth-factor tyrosine kinase-receptor family (EGFR family) have been associated with predilection to cancer.
Markedly elevated ERBB3 mRNA levels were demonstrated in certain human mammary tumor cell lines, suggesting that it may play a role in some human malignancies just as does EGFR (also called ERBB1).
References
Narkis G, Ofir R, Manor E, Landau D, Elbedour K, Birk OS. Lethal congenital contractural syndrome type 2 (LCCS2) is caused by a mutation in ERBB3 (Her3), a modulator of the phosphatidylinositol-3-kinase/Akt pathway. Am J Hum Genet. 2007 Sep;81(3):589-95. PMID: #17701904#