Version 2.78

Description

The FGD1 gene (FYVE, RhoGEF and PH domain containing 1) [HGNC Gene ID:3663] is located on chromosome Xp11.21. 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 faciogenital dysplasia and X-linked mental retardation, syndromatic 16.[provided by RefSeq, Mar 2011] [NCBI Gene ID:2245] Source: National Center for Biotechnology Information (NCBI) Gene

Reference Information

Type Source Reference
Webcontent Online Mendelian Inheritance in Man®Copyright OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University. Link to OMIM

Basic Part Properties

Part Display Name
FGD1 gene
Part Type
Component (Describes the core component or analyte measured)
Created On
2005-03-29
Construct for LOINC Short Name
FGD1 gene

LOINC Terminology Service (API) using HL7® FHIR® Get Info

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP35569-0
ConceptMap translate
https://fhir.loinc.org/ConceptMap/$translate?system=http://loinc.org&code=LP35569-0

Language Variants Get Info

Tag Language Translation
zh-CN Chinese (China) FGD1 基因
Synonyms: AAS;FGDY;FYVE、RhoGEF 及 PH 结构域包含性蛋白 1 (面生殖器发育异常);FYVE、RhoGEF 及 PH 结构域包含性蛋白 1 (面部生殖器发育异常);ZFYVE3;面生殖器发育异常 (Aarskog-Scott 综合征);面部生殖器发育异常 (Aarskog-Scott 综合征)
et-EE Estonian (Estonia) FGD1 geen
es-ES Spanish (Spain) Gen FGD1
it-IT Italian (Italy) FGD1, gene
Synonyms: Gene FGD1
tr-TR Turkish (Turkey) FGD1 geni
ru-RU Russian (Russian Federation) FGD1 ген
nl-NL Dutch (Netherlands) FGD1-gen
Synonyms: FGD1 gen