Sorting Nexin-3 (SNX3) Antibody – Rabbit Polyclonal

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 most family members. This protein interacts with phosphatidylinositol-3-phosphate, and is involved in protein trafficking. A pseudogene of this gene is present on the sex chromosomes. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2014]

SNX3: Phosphoinositide-binding protein required for multivesicular body formation. Specifically binds phosphatidylinositol 3-phosphate (PtdIns(P3)). Plays a role in protein transport between cellular compartments. Promotes stability and cell surface expression of epithelial sodium channel (ENAC) subunits SCNN1A and SCNN1G. Not involved in EGFR degradation. A chromosomal aberration involving SNX3 may be a cause of microphthalmia syndromic type 8 (MCOPS8). Translocation t(6;13)(q21;q12). Microphthalmia is a clinically heterogeneous disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues (anophthalmia). In many cases, microphthalmia/anophthalmia occurs in association with syndromes that include non-ocular abnormalities. MCOPS8 is a very rare congenital syndrome characterized by microcephaly, microphthalmia, ectrodactyly of the lower limbs and prognathism. Intellectual deficit has been reported. Belongs to the sorting nexin family. 4 isoforms of the human protein are produced by alternative splicing.

Protein type: Vesicle

Chromosomal Location of Human Ortholog: 6q21

Cellular Component: clathrin-coated vesicle; cytoplasm; cytosol; early endosome; early endosome membrane; endosome membrane; extrinsic to membrane; retromer complex

Molecular Function: phosphatidylinositol 3-phosphate binding; phosphatidylinositol-5-phosphate binding; protein binding; protein phosphatase binding

Biological Process: endocytosis; hemoglobin biosynthetic process; membrane invagination; negative regulation of phagocytosis; negative regulation of protein catabolic process; negative regulation of protein transport; negative regulation of virion penetration into host cell; protein to membrane docking; regulation of cellular protein metabolic process; regulation of intracellular protein transport; regulation of Wnt receptor signaling pathway; response to bacterium; transferrin transport

Disease: Microphthalmia, Syndromic 8