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ERBB3

MIM.190151 12q13

Monday 15 October 2007

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

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