Aliases for SEC14L2 Gene
External Ids for SEC14L2 Gene
Previous HGNC Symbols for SEC14L2 Gene
Previous GeneCards Identifiers for SEC14L2 Gene
This gene encodes a cytosolic protein which belongs to a family of lipid-binding proteins including Sec14p, alpha-tocopherol transfer protein, and cellular retinol-binding protein. The encoded protein stimulates squalene monooxygenase which is a downstream enzyme in the cholesterol biosynthetic pathway. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Oct 2008]
GeneCards Summary for SEC14L2 Gene
SEC14L2 (SEC14 Like Lipid Binding 2) is a Protein Coding gene. Diseases associated with SEC14L2 include Retinitis Pigmentosa 41 and Vitamin E, Familial Isolated Deficiency Of. Gene Ontology (GO) annotations related to this gene include transporter activity and vitamin E binding. An important paralog of this gene is SEC14L3.
UniProtKB/Swiss-Prot for SEC14L2 Gene
Carrier protein. Binds to some hydrophobic molecules and promotes their transfer between the different cellular sites. Binds with high affinity to alpha-tocopherol. Also binds with a weaker affinity to other tocopherols and to tocotrienols. May have a transcriptional activatory activity via its association with alpha-tocopherol. Probably recognizes and binds some squalene structure, suggesting that it may regulate cholesterol biosynthesis by increasing the transfer of squalene to a metabolic active pool in the cell.