Gene: [08p12/FGFR1] fibroblast growth factor receptor 1; fms-related tyrosine kinase 2; Pfeiffer type acrocephalosyndactyly (MIM:101600);

COM

Robin-1994 demonstrated linkage of DNA markers from Chr 8 in some Pfeiffer syndrome families. Muenke-1994 identified a specific mutation in FGFR1 gene in all affected members of 5 unrelated Pfeiffer syndrome families. Schell-1995 demonstrated that Pfeiffer syndrome can also result from point mutations in the gene for fibroblast growth factor receptor-2."

FUN

[1] Systematic name of enzyme: ATP:protein-tyrosine O-phosphotransferase.
[2] The catalyzed reaction: ATP + a protein tyrosine = ADP + protein tyrosine phosphate."

FAG

Several receptors of FGF genes are identified in the human: GEM:10q2/FGFR2; GEM:04p163/FGFR3; GEM:05q3/FGFR4; GEM:00.0/FGFR6."

MOP

The product of this gene is assumed to be the acidic fibroblast growth factor receptor (GEM:05q3/FGF1)."

REL

GEM:13q12/FLT1.

REF

PAT,MUT "Muenke M &: Nature Genet, 8, N3, 269-274, 1994
PAT,LIN "Robin NH &: Hum Mol Genet, 3, 2153-2158, 1994
FUN,MOP,MEB "Ruta M &: PNAS, 86, N22, 8722-8826, 1989
LOC,SEQ,EXP,FUN "Ruta M &: Oncogene, 3, 9-15, 1988
FAG "see GEM:13q12/FLT1

SWI

 SWISSPROT: P11362

KEY

onc, recp

CLA

coding, basic

LOC

08 p12

MIM

 MIM: 136350

EZN

 ENZYME: 2.7.1.112

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