SNX3 Rabbit Polyclonal Antibody

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], disease:A chromosomal aberration disrupting SNX3 may be a cause of microphthalmia syndromic type 8 (MCOPS8) [MIM:601349]. 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., function:May be involved in several stages of intracellular trafficking., similarity:Belongs to the sorting nexin family., similarity:Contains 1 PX (phox homology) domain.