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抗Rat (Rattus) SNX14 抗体:
抗Human SNX14 抗体:
抗Mouse (Murine) SNX14 抗体:
Human Polyclonal SNX14 Primary Antibody for ICC, IF - ABIN4354983
Huang, Yoon, Brooks, Bakal, Berrios, Larsen, Wallace, Han, Chung, Zylka, Philpot: Snx14 regulates neuronal excitability, promotes synaptic transmission, and is imprinted in the brain of mice. in PLoS ONE 2014
We therefore identify an important role for SNX14 in neutral lipid homeostasis between the endoplasmic reticulum , lysosomes and lipid droplets that may provide an early intervention target to alleviate the clinical symptoms of autosomal recessive cerebellar ataxia 20 (SCAR20).
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 syndrome due to biallelic SNX14 mutations leading to lysosome-autophagosome dysfunction.
SNX19 and SNX14 PX domains reveal key differences in spatial control of RGS-PX proteins in cell signaling and trafficking.
Mutations in SNX14 cause a distinctive autosomal-recessive cerebellar ataxia and intellectual disability syndrome.
SNX14 is a dual endogenous negative regulator in 5-HT6R-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