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SNX10 encodes a member of the sorting nexin family. 再加上，我们可以发SNX10 蛋白 (5)和数多这个蛋白质的别的产品。
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In this study, whole exome sequencing (WES) was successfully used in six patients with malignant infantile osteopetrosis (MIOP) and identified mutations in four MIOP-related genes (CLCN7, TCIRG1, SNX10, and TNFRSF11A).
supplementation with calcium gluconate rescued mice from the rachitic phenotype and extended life span in global Snx10-deficient mice, suggesting that this may be a life-saving component of the clinical approach to Snx10-dependent human osteopetrosis
Data suggest Tyr32 and Arg51 in SNX10 are important for protein stability and play critical roles in vacuolation in osteoclasts; mutation Arg16Leu (seen in autosomal recessive osteopetrosis patients) affects protein-protein interactions of SNX10.
results confirm the involvement of the SNX10 gene in human ARO and identify a new subset with a relatively favorable prognosis as compared to TCIRG1-dependent cases
Structure of sorting nexin 11 (SNX11) reveals a novel extended phox homology (PX) domain critical for inhibition of SNX10-induced vacuolation.
Since inhibition of vesicular trafficking is essential for osteoclast formation and activity and SNX10 is involved in vesicular trafficking, these studies may identify a new gene involved in the development of bone diseases including osteoporosis.
Identification of SNX10 as a new osteopetrosis associated gene in consanguineous families of Palestinian origin.
SNX10 regulates the ciliary trafficking of Rab8a, which is a critical regulator of ciliary membrane extension.
SNX10 activity may be involved in the regulation of endosome homeostasis
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. This protein does not contain a coiled coil region, like some family members. This gene may play a role in regulating endosome homeostasis. Alternative splicing results in multiple transcript variants.
, sorting nexin 10
, sorting nexin 10 L homeolog
, sorting nexin-10B