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 |
Смотрите также:
