The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
Use a concentration of 1 µg/ml. Predicted molecular weight: 74 kDa.
May act as a high-affinity cell-surface receptor for the complex retinol-retinol binding protein (RBP/RBP4). Acts by removing retinol from RBP/RBP4 and transports it across the plasma membrane, where it can be metabolized. This mechanism does not depend on endocytosis. Binds to RBP/RBP4 with high affinity. Increases cellular retinol uptake from the retinol-RBP complex.
Broad expression. In adult eye expressed in sclera, retina, retinal pigment epithelium, and trabecular meshwork but not in choroid and iris.
Involvement in disease
Defects in STRA6 are the cause of microphthalmia syndromic type 9 (MCOPS9) [MIM:601186]; also called Matthew-Wood syndrome or Spear syndrome. 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. MCOPS9 is a rare clinical entity including as main characteristics anophthalmia or severe microphthalmia, and pulmonary hypoplasia or aplasia. Note=Mutations in STRA6 may be a cause of isolated colobomatous microphthalmia, a disorder of the eye characterized by an abnormally small ocular globe.