Gene Symbol | OSBPL2 |
Entrez Gene ID | 9885 |
Full Name | oxysterol binding protein like 2 |
Synonyms | DFNA67,DNFA67,ORP-2,ORP2 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a member of the oxysterol-binding protein (OSBP) family, a group of intracellular lipid receptors. Most members contain an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain, although the encoded protein contains only the sterol-binding domain. In vitro studies have shown that the encoded protein can bind strongly to phosphatic acid and weakly to phosphatidylinositol 3-phosphate, but cannot bind to 25-hydroxycholesterol. The protein associates with the Golgi apparatus. Transcript variants encoding different isoforms have been described. [provided by RefSeq, Sep 2014]. |
Disorder MIM: | |
Disorder Html: | Deafness, autosomal dominant 67, 616340 (3) |