Gene: [0Xq26/GPC3] glypican 3 (intestinal proteoglycan); Simpson-Golabi-Behmel overgrowth syndrome (dysplasia-gigantism syndrome; MIM:312870); [SDYS DGSX ]
|
COM |
Shen-1997 assigned the GPC3 gene to Chr Xq26 by fluorescence in situ hybridization." |
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COD |
"The 2,130-bp GPC3 cDNA encodes a putative protein chain of 580 amino
acids beginning 151 bp from the start of the sequence. GPC3 shares a number of features with the GPC1 gene (GEM:02q3/GPC1)." |
|
MUT |
In cell line originated from a woman with Simpson-Golabi-Behmel syndrome, the breakpoint was mapped in an existing contig assembled across Xq26. This breakpoint was found to interrupt a gene, called GPC3 (Pilia-1996)." |
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REF |
PHE,PAT,FOG "Behmel A &: Am J Med Genet, 30, 275-285, 1988 PHE,PAT,FOG "Behmel A &: Hum Genet, 67, 409-413, 1984 CLO,EXP "Filmus J &: Biochem J, 311, (Part 2), 561-565, 1995 PHE,PAT,FOG "Golabi M, Rosen L: Am J Med Genet, 17, N1, 345-358, 1984 PHE,PAT,FOG "Konig R &: Am J Med Genet, 38, N2-3, 244-247, 1991 MUT,PAT,HET "Lindsay S &: J Med Genet, 34, N2, 480-483, 1997 PHE,PAT,FOG "Neri G &: Am J Med Genet, 30, 287-299, 1988 PHE,PAT,FOG "Opitz JM &: Am J Med Genet, 30, 301-308, 1988 COD,SEQ,ABR,LIN,PAT "Pilia G &: Nature Genet, 12, 241-247, 1996 LOC,EAG "Shen T &: Mammal Genome, 8, N1, 72-72, 1997 IDN,PHE,FOG "Simpson JL &: Birth Def Orig Art Ser, 11, N2, 18-24, 1975 |
|
KEY |
git, mem, devd |
|
CLA |
coding, basic |
|
LOC |
0X q26 |
|
MIM |
MIM: 300037 |
|
SYN |
SDYS DGSX |
