Gene Symbol | PTPRQ |
Entrez Gene ID | 374462 |
Full Name | protein tyrosine phosphatase, receptor type Q |
Synonyms | DFNA73,DFNB84,DFNB84A,PTPGMC1,R-PTP-Q |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This locus encodes a member of the type III receptor-like protein-tyrosine phosphatase family. The encoded protein catalyzes the dephosphorylation of phosphotyrosine and phosphatidylinositol and plays roles in cellular proliferation and differentiation. Mutations at this locus have been linked to autosomal recessive deafness. [provided by RefSeq, Mar 2014]. |
Disorder MIM: | |
Disorder Html: | Deafness, autosomal recessive 84A, 613391 (3); Deafness, autosomal dominant 73, 617663 (3) |