This gene is a member of the receptor tyrosine phosphatase family and encodes a single-pass type I membrane protein with two cytoplasmic tyrosine-protein phosphatase domains, an alpha-carbonic anhydrase domain and a fibronectin type III domain. Alternative splice variants that encode different protein isoforms have been described but their full-length nature has not been determined.[7]
Clinical significance[]
Expression of this gene is induced in gastric cancer cells, in the remyelinating oligodendrocytes of multiple sclerosis lesions, and in human embryonic kidney cells under hypoxic conditions. Both the protein and transcript are overexpressed in glioblastoma cells, promoting their haptotactic migration.[7]
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^"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
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Harroch S, Furtado GC, Brueck W, Rosenbluth J, Lafaille J, Chao M, Buxbaum JD, Schlessinger J (2002). "A critical role for the protein tyrosine phosphatase receptor type Z in functional recovery from demyelinating lesions". Nat. Genet. 32 (3): 411–4. doi:10.1038/ng1004. PMID12355066. S2CID19800079.
Bonora E, Lamb JA, Barnby G, Sykes N, Moberly T, Beyer KS, Klauck SM, Poustka F, Bacchelli E, Blasi F, Maestrini E, Battaglia A, Haracopos D, Pedersen L, Isager T, Eriksen G, Viskum B, Sorensen EU, Brondum-Nielsen K, Cotterill R, van Engeland H, de Jonge M, Kemner C, Steggehuis K, Scherpenisse M, Rutter M, Bolton PF, Parr JR, Poustka A, Bailey AJ, Monaco AP (2005). "Mutation screening and association analysis of six candidate genes for autism on chromosome 7q". Eur. J. Hum. Genet. 13 (2): 198–207. doi:10.1038/sj.ejhg.5201315. PMID15523497.