Gene: [10q2/FGFR2] fibroblast growth factor receptor 2 (bacteria-expressed kinase); keratinocyte growth factor receptor; protein tyrosine kinase FGFR-like 2 (BEK-related); craniofacial dysostosis 1 (Crouzon syndrome; MIM:123500); Pfeiffer syndrome (MIM:101600); Jackson-Weiss syndrome (MIM:123150); Beare-Stevenson cutis gyrata syndrome (MIM:123790); Apert syndrome (MIM:101200);
|
FUN |
[1] Systematic name of enzyme:
ATP:protein-tyrosine O-phosphotransferase.
[2] The catalyzed reaction: ATP + a protein tyrosine = ADP + protein tyrosine phosphate." |
|
REF |
LOC "Dionne CA &: CCG, 60, 34-36, 1992 MUT "Gorry MC &: Hum Mol Genet, 4, 1387-1390, 1995 MUT "Hollway GE &: Hum Genet, 99, 251-255, 1997 COD,SEQ,PEP "Houssaint E &: PNAS, 87, 8180-8184, 1990 MUT "Jabs EW &: Nature Genet, 8, 275-279, 1994 MUT "Lajeunie E &: Nature Genet, 9, 108-108, 1995 LOC "Mattei MG &: Hum Genet, 87, 84-86, 1991 MUT "Meyers GA &: AJHG, 58, 491-498, 1996 MUT "Park W-J &: Hum Mol Genet, 4, 1229-1233, 1995 LOC "Preston RA &: Nature Genet, 7, 149-153, 1994 MUT "Przylepa KA &: Nature Genet, 13, 492-494, 1996 MUT "Reardon W &: Nature Genet, 8, 98-103, 1994 MUT "Rutland P &: Nature Genet, 9, 173-176, 1995 MUT "Slaney SF &: AJHG, 58, 923-932, 1996 MUT "Steinberger D &: Am J Med Genet, 66, 81-86, 1996a MUT "Steinberger D &: Hum Mut, 8, 386-390, 1996b MUT "Steinberger D &: Hum Genet, 96, 113-115, 1995 MUT "Tartaglia M &: Hum Genet, 99, 602-606, 1997 MUT "Wilkie AOM &: Nature Genet, 9, 165-172, 1995 |
|
KEY |
hem, onc, recp, mem, pep |
|
CLA |
coding, basic |
|
LOC |
10 q25.3-26 |
|
MIM |
MIM: 176943 |
|
EZN |
ENZYME: 2.7.1.112 |
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