Primary Identifier | IPR037779 | Type | Domain |
Short Name | SynGAP_PH |
description | RasSynGAP family members include SynGAP, DOC-2/DAB2-interacting protein (DAB2IP) and neuronal growth-associated protein (nGAP/RASAL2). They contain the PH domain, C2 domain and the RasGAP domain.SynGAP (also known as SYNGAP1) is a negative regulator of Ras and Rap GTPases [, ]. It is s primarily expressed in the excitatory neurons in the brain. It has several isoforms, SYNGAP A, B and C, differing in their N-termini. A and B isoforms contain unique peptide sequence and a complete PH domain, whereas isoform C is a shorter, truncated protein with no unique peptide sequence and no PH domain []. Mutations in the SynGAP gene cause mental retardation, autosomal dominant 5 [].This entry represents the PH domain of SynGAP. |