Gene: [04p163/FGFR3] fibroblast growth factor receptor 3; protein tyrosine kinase FGFR-like 3; achondroplasia (MIM:100800); Muenke nonsyndromic coronal craniosynostosis (MIM:602849); thanatophoric dysplasia (MIM:187600);
FUN | Systematic name of enzyme: ATP:protein-tyrosine O-phosphotransferase. The catalyzed reaction: ATP + a protein tyrosine = ADP + protein tyrosine phosphate." |
REF | MUT,PAT "Baker KM &: Am J Med Genet, 70, 427-436, 1997 MUT "Bellus GA &: Nature Genet, 14, 174-176, 1996 MUT "Bellus GA &: AJHG, 56, 368-373, 1995a MUT "Bellus GA &: Nature Genet, 10, 357-359, 1995b FUN "Deng C &: Cell, 84, 911-921, 1996 MUT "Francomano CA &: AJHG, 59, A25-25, 1996 MUT,REV "Francomano CA &: Hum Mol Genet, 3, 787-792, 1994 ABR "Hersh JH &: J Med Genet, 32, 293-295, 1995 MUT "Ikegawa S &: Hum Genet, 96, 309-311, 1995 CLO,SEQ,EXP "Keegan K &: PNAS, 88, 1095-1099, 1991 MUT "Meyers GA &: Nature Genet, 11, 462-464, 1995 MUT "Muenke M &: AJHG, 60, 555-564, 1997 MUT "Naski MC &: Nature Genet, 13, 233-237, 1996 MUT "Nishimura G &: Am J Med Genet, 59, 393-395, 1995 MUT "Pokharel RK &: BBRC, 227, 236-239, 1996 MUT "Prinos P &: Hum Mol Genet, 4, 2097-2101, 1995 MUT "Rousseau F &: Hum Mol Genet, 5, 509-512, 1996 MUT "Rousseau F &: Nature Genet, 10, 11-12, 1995 MUT "Rousseau F &: Nature, 371, 252-254, 1994 MUT "Shiang R &: Cell, 78, 335-342, 1994 MUT "Superti-Furga A &: Eur J Pediatr, 154, 215-219, 1995 MUT "Tavormina PL &: Hum Mol Genet, 4, 2175-2177, 1995a MUT "Tavormina PL &: Nature Genet, 9, 321-328, 1995b CLO,EXP "Thompson LM &: Genomics, 11, 1133-1142, 1991 |
SWI | SWISSPROT: P22607 |
KEY | neu, hem, onc, recp |
CLA | coding, basic |
LOC | 04 p16.3 |
MIM | MIM: 134934 |
EZN | ENZYME: 2.7.1.112 |
