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Here we report on a child with a novel missense mutation in the SNX14 gene that appears to be debilitating for protein conformation, function and review the previously reported cases from 15 families
A unique ataxia (zeige USP14 Proteine) syndrome due to biallelic SNX14 mutations leading to lysosome-autophagosome dysfunction.
SNX19 (zeige SNX19 Proteine) and SNX14 PX domains reveal key differences in spatial control of RGS (zeige PITX2 Proteine)-PX proteins in cell signaling and trafficking.
Mutations in SNX14 cause a distinctive autosomal-recessive cerebellar ataxia (zeige USP14 Proteine) and intellectual disability syndrome.
SNX14 is a dual endogenous negative regulator in 5-HT6R (zeige HTR6 Proteine)-mediated signaling pathway.
These data reveal a role for monoallelic Snx14 expression in maintaining normal neuronal excitability and synaptic transmission.
This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. The encoded protein also contains a regulator of G protein signaling (RGS) domain. Regulator of G protein signaling family members are regulatory molecules that act as GTPase activating proteins for G alpha subunits of heterotrimeric G proteins. Two transcript variants encoding distinct isoforms have been identified for this gene.
, sorting nexin 14
, sorting nexin-14-like