RBCC Red Blood Cell Collection

SNX3_HUMAN

Source: PM19886704
PM23856902
PM22954596
Marked as 'Non-membrane protein'
Confidence: medium (present in either hRBCD or BSc_CH or PM22954596) Search PubMed for
(RBC AND this entry)
Gene names: SNX3
Protein names and data: SNX3_HUMAN , Sorting nexin-3 , Protein SDP3 Lenght: 162 a.a.
Mass: 18762 Da
fasta formatted sequence
Function: 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 (By similarity). Not involved in EGFR degradation.
Disease: ( OMIM: 601349 605930 ) Microphthalmia, syndromic, 8 (MCOPS8) [MIM:601349]: A very rare congenital syndrome characterized by microcephaly, microphthalmia, ectrodactyly of the lower limbs and prognathism. Intellectual deficit has been reported. Microphthalmia is a 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. Note=The gene represented in this entry may be involved in disease pathogenesis. A chromosomal aberration involving SNX3 has been found in patients with syndromic microphthalmia. Translocation t(6;13)(q21;q12).
Cellular location: Early endosome.

Database cross-references

UniProt: O60493
Ensembl: ENST00000230085
Ensembl: ENST00000349379
Ensembl: ENST00000368979
Ensembl: ENST00000368982
Ensembl: ENST00000426155
MIM: 601349
MIM: 605930
neXtProt: NX_O60493
Antibodypedia: O60493 (may not find the protein thus also not any antibody)
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