Gene: [0Xp1121/FGD1] rho/rac guanine nucleotide exchange factor; faciogenital dysplasia (Aarskog syndrome); [FGDY ]


COM

Glover-1993 mapped the FGD1 gene to Xp11.21 between ALAS2 (GEM:0Xp1121/ALAS2) and DXS323."

REF

HIS,PHE,FOG "Aarskog D: J Pediatr, 77, 856-861, 1970
LOC,CYG "Bawle E &: Am J Med Genet, 17, 595-602, 1984
HIS,PHE,FOG "Berman &: Birth Def Orig Art Ser, 10, N7, 151-159, 1974
HIS,PHE,FOG "Casteels M &: Genet Couns, 5, 81-83, 1994
HIS,PHE,FOG "Escobar, Weaver: JAMA, 240, 2638-2641, 1978
HIS,PHE,FOG "Fernandez I &: Am J Med Genet, 50, 318-322, 1994
HIS,PHE,FOG "Fryns JP: Am J Med Genet, 45, 122-122, 1993
HIS,PHE,FOG "Fryns JP: Am J Med Genet, 43, 420-427, 1992
HIS,PHE,FOG "Fryns JP &: Hum Genet, 42, 129-135, 1978
LOC,CYG "Glover TW &: Hum Mol Genet, 2, 1717-1718, 1993
HIS,PHE,FOG "Hoo JJ: Clin Genet, 16, 269-276, 1979
HIS,PHE,FOG "Kodama &: Eur J Pediatr, 135, 273-276, 1981
HIS,PHE,FOG "Mikelsaar RV-A, Lurie IW: J Med Genet, 29, 349-350, 1992
CLO,SEQ,STR,MUT "Pasteris NG &: AJHG, 55, A3-3, 1994a
CLO,SEQ,STR,MUT "Pasteris NG &: Cell, 79, 669-678, 1994b
HIS,PHE,FOG "Pedersen &: Ann Genet, 23, 108-110, 1980
LOC,CYG "Porteous ME &: Genomics, 14, 298-301, 1992
LOC,CYG "Rafael J &: AJHG, 51, A116-116, 1992
HIS,PHE,FOG "Scott CI: Birth Def Orig Art Ser, 7, N6, 240-246, 1971
LOC,CYG "Stevenson RE &: Am J Med Genet, 52, 339-345, 1994
HIS,PHE,FOG "Tsukahara M, Fernandez GI: Clin Genet, 45, 260-265, 1994
HIS,PHE,FOG "van den Bergh &: Clin Genet, 25, 288-294, 1984

SWI

 SWISSPROT: P98174

KEY

devd

CLA

coding, basic

LOC

0X p11.21

MIM

 MIM: 305400

SYN

FGDY