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 Ataxia With Isolated Vitamin E Deficiency. 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.