4p59
From Proteopedia
Contents |
HER3 extracellular domain in complex with Fab fragment of MOR09825
Template:ABSTRACT PUBMED 23928993
Disease
[ERBB3_HUMAN] 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.[1]
Function
[ERBB3_HUMAN] Binds and is activated by neuregulins and NTAK.[2]
About this Structure
4p59 is a 3 chain structure. Full crystallographic information is available from OCA.
Reference
- Garner AP, Bialucha CU, Sprague ER, Garrett JT, Sheng Q, Li S, Sineshchekova O, Saxena P, Sutton CR, Chen D, Chen Y, Wang H, Liang J, Das R, Mosher R, Gu J, Huang A, Haubst N, Zehetmeier C, Haberl M, Elis W, Kunz C, Heidt AB, Herlihy K, Murtie J, Schuller A, Arteaga CL, Sellers WR, Ettenberg SA. An antibody that locks HER3 in the inactive conformation inhibits tumor growth driven by HER2 or neuregulin. Cancer Res. 2013 Oct 1;73(19):6024-35. doi: 10.1158/0008-5472.CAN-13-1198. Epub, 2013 Aug 8. PMID:23928993 doi:http://dx.doi.org/10.1158/0008-5472.CAN-13-1198
- ↑ 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. Epub 2007 Jul 24. PMID:17701904 doi:S0002-9297(07)61355-X
- ↑ Kinugasa Y, Ishiguro H, Tokita Y, Oohira A, Ohmoto H, Higashiyama S. Neuroglycan C, a novel member of the neuregulin family. Biochem Biophys Res Commun. 2004 Sep 3;321(4):1045-9. PMID:15358134 doi:10.1016/j.bbrc.2004.07.066
