FGD1

该基因编码一种含有dbl(dh)和pleckstrin(ph)同源结构域的蛋白质,与小gtp结合蛋白rho家族相似。编码蛋白与Rho家族GTPase-Cdc42Hs特异性结合,能刺激Cdc42Hs等肾素化形式的GDP-GTP交换它还刺激丝裂原活化蛋白激酶级联反应,导致c-Jun激酶SAPK/JNK1活化该基因缺陷是导致Aarskog-Scott综合征面部发育不良和X连锁认知功能障碍的一种综合征形式的原因。[由RefSeq提供,2017年7月]
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]

别名

AAS,FGDY,MRXS16,ZFYVE3

基因id

Chromosome:X Start: 54471887 End: 54522599 Strand: 

药物

突变与药物

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