Gene: SNX10

Alternate names for this Gene: OPTB8

Gene Summary: 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.

Gene is located in Chromosome: 7

Location in Chromosome : 7p15.2

Description of this Gene: sorting nexin 10

Type of Gene: protein-coding

rs4722593 in SNX10 gene and High density lipoprotein measurement PMID 30275531 2018 Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program.

rs398123011 in SNX10 gene and OSTEOPETROSIS, AUTOSOMAL RECESSIVE 8 PMID 23280965 2013 SNX10 mutations define a subgroup of human autosomal recessive osteopetrosis with variable clinical severity.

PMID 22499339 2012 An SNX10 mutation causes malignant osteopetrosis of infancy.

PMID 23123320 2013 Homozygous stop mutation in the SNX10 gene in a consanguineous Iraqi boy with osteopetrosis and corpus callosum hypoplasia.

rs1534696 in SNX10 gene and Smoking PMID 28443625 2017 Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits.

rs1534696 in SNX10 gene and Smoking Behaviors PMID 28443625 2017 Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits.

rs1534696 in SNX10 gene and Waist-Hip Ratio PMID 30239722 2019 Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.