免疫原
The antiserum was produced against synthesized peptide derived from human SNX3. AA range:91-140
特异性
SNX3 Monoclonal Antibody detects endogenous levels of SNX3 protein.
组成
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
纯化工艺
The antibody was affinity-purified from mouse antiserum by affinity-chromatography using epitope-specific immunogen.
其他名称
SNX3; Sorting nexin-3; Protein SDP3
背景
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],
功能
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.,
