FGD1 (gene)

FGD1 (gene)

FYVE, RhoGEF and PH domain containing 1 (faciogenital dysplasia), also known as FGD1, is a human gene.cite web | title = Entrez Gene: FGD1 FYVE, RhoGEF and PH domain containing 1 (faciogenital dysplasia)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2245| accessdate = ]

PBB_Summary
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summary_text = FGD1 contains Dbl (DH) and pleckstrin (PH) homology domains. It can bind specifically to the Rho family GTPase Cdc42Hs and stimulate the GDP-GTP exchange of the isoprenylated form of Cdc42Hs. It also stimulates the mitogen activated protein kinase cascade leading to c-Jun kinase SAPK/JNK1 activation. FGD1 has an essential role in embryonic development, and FGD1 gene mutations result in the human developmental disorder, Aarskog-Scott syndrome.cite web | title = Entrez Gene: FGD1 FYVE, RhoGEF and PH domain containing 1 (faciogenital dysplasia)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2245| accessdate = ]

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Pasteris NG, Cadle A, Logie LJ, "et al." |title=Isolation and characterization of the faciogenital dysplasia (Aarskog-Scott syndrome) gene: a putative Rho/Rac guanine nucleotide exchange factor. |journal=Cell |volume=79 |issue= 4 |pages= 669–78 |year= 1994 |pmid= 7954831 |doi=
*cite journal | author=Glover TW, Verga V, Rafael J, "et al." |title=Translocation breakpoint in Aarskog syndrome maps to Xp11.21 between ALAS2 and DXS323. |journal=Hum. Mol. Genet. |volume=2 |issue= 10 |pages= 1717–8 |year= 1994 |pmid= 8268928 |doi=
*cite journal | author=Zheng Y, Fischer DJ, Santos MF, "et al." |title=The faciogenital dysplasia gene product FGD1 functions as a Cdc42Hs-specific guanine-nucleotide exchange factor. |journal=J. Biol. Chem. |volume=271 |issue= 52 |pages= 33169–72 |year= 1997 |pmid= 8969170 |doi=
*cite journal | author=Olson MF, Pasteris NG, Gorski JL, Hall A |title=Faciogenital dysplasia protein (FGD1) and Vav, two related proteins required for normal embryonic development, are upstream regulators of Rho GTPases. |journal=Curr. Biol. |volume=6 |issue= 12 |pages= 1628–33 |year= 1997 |pmid= 8994827 |doi=
*cite journal | author=Pasteris NG, Buckler J, Cadle AB, Gorski JL |title=Genomic organization of the faciogenital dysplasia (FGD1; Aarskog syndrome) gene. |journal=Genomics |volume=43 |issue= 3 |pages= 390–4 |year= 1997 |pmid= 9268645 |doi= 10.1006/geno.1997.4837
*cite journal | author=Gorski JL, Estrada L, Hu C, Liu Z |title=Skeletal-specific expression of Fgd1 during bone formation and skeletal defects in faciogenital dysplasia (FGDY; Aarskog syndrome). |journal=Dev. Dyn. |volume=218 |issue= 4 |pages= 573–86 |year= 2000 |pmid= 10906777 |doi= 10.1002/1097-0177(2000)9999:9999<::AID-DVDY1015>3.0.CO;2-F |doilabel=10.1002/1097-0177(2000)9999:9999::AID-DVDY10153.0.CO;2-F
*cite journal | author=Orrico A, Galli L, Falciani M, "et al." |title=A mutation in the pleckstrin homology (PH) domain of the FGD1 gene in an Italian family with faciogenital dysplasia (Aarskog-Scott syndrome). |journal=FEBS Lett. |volume=478 |issue= 3 |pages= 216–20 |year= 2000 |pmid= 10930571 |doi=
*cite journal | author=Schwartz CE, Gillessen-Kaesbach G, May M, "et al." |title=Two novel mutations confirm FGD1 is responsible for the Aarskog syndrome. |journal=Eur. J. Hum. Genet. |volume=8 |issue= 11 |pages= 869–74 |year= 2000 |pmid= 11093277 |doi= 10.1038/sj.ejhg.5200553
*cite journal | author=Estrada L, Caron E, Gorski JL |title=Fgd1, the Cdc42 guanine nucleotide exchange factor responsible for faciogenital dysplasia, is localized to the subcortical actin cytoskeleton and Golgi membrane. |journal=Hum. Mol. Genet. |volume=10 |issue= 5 |pages= 485–95 |year= 2001 |pmid= 11181572 |doi=
*cite journal | author=Lebel RR, May M, Pouls S, "et al." |title=Non-syndromic X-linked mental retardation associated with a missense mutation (P312L) in the FGD1 gene. |journal=Clin. Genet. |volume=61 |issue= 2 |pages= 139–45 |year= 2002 |pmid= 11940089 |doi=
*cite journal | author=Brugnera E, Haney L, Grimsley C, "et al." |title=Unconventional Rac-GEF activity is mediated through the Dock180-ELMO complex. |journal=Nat. Cell Biol. |volume=4 |issue= 8 |pages= 574–82 |year= 2002 |pmid= 12134158 |doi= 10.1038/ncb824
*cite journal | author=Strausberg RL, Feingold EA, Grouse LH, "et al." |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899
*cite journal | author=Zand DJ, Carpentieri D, Huff D, "et al." |title=Crane-Heise syndrome: a second familial case report with elaboration of phenotype. |journal=Am. J. Med. Genet. A |volume=118 |issue= 3 |pages= 223–8 |year= 2004 |pmid= 12673651 |doi= 10.1002/ajmg.a.10026
*cite journal | author=Hou P, Estrada L, Kinley AW, "et al." |title=Fgd1, the Cdc42 GEF responsible for Faciogenital Dysplasia, directly interacts with cortactin and mAbp1 to modulate cell shape. |journal=Hum. Mol. Genet. |volume=12 |issue= 16 |pages= 1981–93 |year= 2004 |pmid= 12913069 |doi=
*cite journal | author=Orrico A, Galli L, Cavaliere ML, "et al." |title=Phenotypic and molecular characterisation of the Aarskog-Scott syndrome: a survey of the clinical variability in light of FGD1 mutation analysis in 46 patients. |journal=Eur. J. Hum. Genet. |volume=12 |issue= 1 |pages= 16–23 |year= 2004 |pmid= 14560308 |doi= 10.1038/sj.ejhg.5201081
*cite journal | author=Yanagi K, Kaname T, Chinen Y, Naritomi K |title=Novel alternative splicing of human faciogenital dysplasia 1 gene. |journal=Congenital anomalies |volume=44 |issue= 3 |pages= 137–41 |year= 2005 |pmid= 15327482 |doi= 10.1111/j.1741-4520.2004.00026.x
*cite journal | author=Gerhard DS, Wagner L, Feingold EA, "et al." |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504
*cite journal | author=Hayakawa M, Kitagawa H, Miyazawa K, "et al." |title=The FWD1/beta-TrCP-mediated degradation pathway establishes a 'turning off switch' of a Cdc42 guanine nucleotide exchange factor, FGD1. |journal=Genes Cells |volume=10 |issue= 3 |pages= 241–51 |year= 2005 |pmid= 15743413 |doi= 10.1111/j.1365-2443.2005.00834.x
*cite journal | author=Kaname T, Yanagi K, Okamoto N, Naritomi K |title=Neurobehavioral disorders in patients with Aarskog-Scott syndrome affected by novel FGD1 mutations. |journal=Am. J. Med. Genet. A |volume=140 |issue= 12 |pages= 1331–2 |year= 2006 |pmid= 16688726 |doi= 10.1002/ajmg.a.31253

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