Gene: [0Xp222/RPS6KA3] ribosomal protein S6 kinase, 90kD, polypeptide A3; Coffin-Lowry syndrome (CLS; mental retardation/osteopathy; MIM:303600);
COM | Trivier-1996 mapped the RPS6KA3 gene to Xp22.2 between markers DXS365 and DXS7161." |
REF | MAP,PAT "Biancalana V
&: Genomics, 22, N3, 617-625, 1994 LIN,LOC,PAT "Biancalana V &: AJHG, 50, 981-987, 1992 LIN,LOC,PAT "Bird H &: Am J Med Genet, 59, 512-516, 1995 CLO,SEQ,STR,LOC "Bjoerbaek C &: Diabetes, 44, 90-97, 1995 HIS "Coffin &: Am J Dis Child, 112, 205-213, 1966 PHE,REV "Collacott &: J Ment Def Res, 31, 199-207, 1987 PHE,REV "Gorlin: Am J Med Genet, 10, 103-104, 1981 LIN,LOC,PAT "Hanauer A &: Am J Med Genet, 30, 523-530, 1988 LIN,LOC,PAT "Hanauer A &: CCG, 46, 626-626, 1987 PHE,REV "Hunter &: Clin Genet, 21, 321-335, 1982 HIS "Lowry &: Am J Dis Child, 121, 496-500, 1971 CLO,EXP "Moller DE &: Am J Physiol, 266, C351-359, 1994 PHE,REV "Temtamy &: J Pediatr, 86, 724-731, 1975 CLO,SEQ,LOC,MUT "Trivier E &: Nature, 384, 567-570, 1996 PHE,REV "Vles &: Clin Genet, 26, 448-452, 1984 FUN "Zhao Y &: Mol Cell Biol, 15, 4353-4363, 1995 |
SWI | SWISSPROT: P51812 |
KEY | bone, neu, devd |
CLA | coding, basic |
LOC | 0X p22.2 |
MIM | MIM: 300075 |
EZN | ENZYME: 2.7.1.? |
