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

Смотрите также:

  • Гены рецепторов FGF (FGFR)
  • Gene: [10q25/CASP7] caspase 7, apoptosis-related cysteine protease; craniofacial dysostosis 1? (Crouzon syndrome; MIM:123500);
  • Gene: [08p12/FGFR1] fibroblast growth factor receptor 1; fms-related tyrosine kinase 2; Pfeiffer type acrocephalosyndactyly (MIM:101600);
  • HUGEN-рецептор FGF
  • HUGEN-рецептор фактора роста фибробластов