Gene: [08q2411/EXT1] exostosin 1; exostoses (multiple) 1; trichorhinophalangeal syndrome, type II (Langer-Giedion syndrome; MIM:150230); [TRPS2 ]
CAG | [1] There
are 3 forms of multiple exostoses: EXT1, EXT2 (GEM:11p1/EXT2), and EXT3 (GEM:19p1/EXT3). [2] Ludecke-1995 and Hou-1995 showed that the Langer-Giedion syndrome is a true contiguous gene syndrome due to loss of functional copies of both the TRPS1 (GEM:08q2411/TRPS1) and the EXT1 gene and that the EXT1 gene is distal to the TRPS1 gene." |
FUN | Hecht-1995 and Raskind-1995 suggested that EXT1 and EXT2 genes have tumor-suppressor function." |
REF | LOC,LOC,SEQ,MUT "Ahn J &: Nature Genet, 11,
137-143, 1995 LIN,LOC "Beals R &: CCG, 37, 416-417, 1984 HET,LIN,LOC "Blanton SH &: Am J Med Genet, 62, N2, 150-159, 1996 MAP,PHE,LOC "Buhler EM, Malik NJ: Am J Med Genet, 19, 113-119, 1984 HET,LIN,LOC "Cook A &: AJHG, 53, 71-79, 1993 HET,LIN,LOC "Cook A &: AJHG, 51, A362, 1992 PAT "Del-Rio R &: Arch Derm, 128, 1655-1656, 1992 MAP,PHE "Hall &: Am J Med Genet, 22, 639-640, 1985 HET,LIN,LOC,FUN "Hecht JT &: AJHG, 56, 1125-1131, 1995 LOC "Hou J &: Genomics, 29, 87-97, 1995 HET,LIN,LOC "Le Merrer M &: J Med Genet, 29, 713-715, 1992 LOC "Ludecke H-J &: Hum Mol Genet, 4, 31-36, 1995 PAT,ABR,LOC "Mertens F &: Genes Chromosom Cancer, 9, 8-12, 1994 PAT,ABR,LOC "Ogle RF &: J Med Genet, 28, 881-883, 1991 MUT "Philippe C &: AJHG, 61, 520-528, 1997 HET,LIN,LOC,FUN "Raskind WH &: AJHG, 56, 1132-1139, 1995 REV "Wicklund CL &: Am J Med Genet, 55, 43-46, 1995 LOC "Yoshiura K &: Genes Chromosom Cancer, 9, 57-61, 1994 |
SWI | SWISSPROT: Q16394 |
KEY | bone, devd |
CLA | coding, basic |
LOC | 08 q24.11 |
MIM | MIM: 133700 |
SYN | TRPS2 |
