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Gene : FGD1 Homo sapiens

Name  ? FYVE, RhoGEF and PH domain containing 1 Cytological Location  Xp11.22
Brief Description  FYVE, RhoGEF and PH domain containing 1
description  This gene encodes a protein that contains Dbl (DH) and pleckstrin (PH) homology domains and is similar to the Rho family of small GTP-binding proteins. The encoded protein specifically binds to the Rho family GTPase Cdc42Hs and can 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. Defects in this gene are the cause of the faciogenital dysplasia in Aarskog-Scott syndrome and a syndromatic form of X-linked cognitive disability. [provided by RefSeq, Jul 2017]
  • synonyms:
  • ZFYVE3,
  • FGDY,
  • OTTHUMG00000021627,
  • U11690,
  • MRXS16,
  • NM_004463,
  • FGDY,
  • uc004dtg.3,
  • FGD1,
  • AAS,
  • HGNC:3663,
  • ZFYVE3,
  • faciogenital dysplasia (Aarskog-Scott syndrome)
  • identifiers:
  • 2245,
  • ENSG00000102302,
  • FGD1

Genome feature

Region: gene ? Length: 50781  
Location: X:54445454-54496234 reverse strand Cyto location: Xp11.22

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1 Diseases

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71 SN Ps

5 Cross References

19 Data Sets

8 Homologues

0 Located Features

97 Rna Seq Results