SNX10

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 encodes a protein whose function has not been determined. [provided by RefSeq]

Full Name

sorting nexin 10

Function

Probable phosphoinositide-binding protein involved in protein sorting and membrane trafficking in endosomes. Plays a role in cilium biogenesis through regulation of the transport and the localization of proteins to the cilium. Required for the localization to the cilium of V-ATPase subunit ATP6V1D and ATP6V0D1, and RAB8A. Involved in osteoclast differentiation and therefore bone resorption.

Biological Process

Biological Process bone mineralization involved in bone maturationIEA:Ensembl
Biological Process bone resorptionIEA:Ensembl
Biological Process calcium ion homeostasisIEA:Ensembl
Biological Process cellular homeostasisIEA:Ensembl
Biological Process cellular response to leukemia inhibitory factorIEA:Ensembl
Biological Process cilium assemblyManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process endocytosisIEA:Ensembl
Biological Process endosome organizationManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process gastric acid secretionIEA:Ensembl
Biological Process intracellular protein transportIEA:InterPro
Biological Process osteoclast differentiationISS:UniProtKB
Biological Process protein localization to centrosomeManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process protein localization to ciliumManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process ruffle assemblyIEA:Ensembl
Biological Process tooth eruptionIEA:Ensembl
Biological Process vesicle organizationManual Assertion Based On ExperimentIBA:GO_Central

Cellular Location

Cytoplasm
Endosome membrane
Cytoplasm, cytoskeleton, microtubule organizing center, centrosome
May also localize to nucleus and endoplasmic reticulum.

Involvement in disease

Osteopetrosis, autosomal recessive 8 (OPTB8):
A rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. Osteopetrosis occurs in two forms: a severe autosomal recessive form occurring in utero, infancy, or childhood, and a benign autosomal dominant form occurring in adolescence or adulthood. Recessive osteopetrosis commonly manifests in early infancy with macrocephaly, feeding difficulties, evolving blindness and deafness, bone marrow failure, severe anemia, and hepatosplenomegaly. Deafness and blindness are generally thought to represent effects of pressure on nerves. OPTB8 is clinically characterized by dense bones with no distinction between outer and inner plates, due to extensive encroachment of cortical bone into the medullary space, increased head circumference, broad open fontanelle, frontal bossing, and hepatosplenomegaly. Osteoclasts number is low and their bone resorptive capacity is impaired.