Disease-gene associations mined from literature

Literature associating SEC14L2 and familial isolated deficiency of vitamin E

SEC14L2 [ENSP00000478755]

Alpha-tocopherol-associated protein; 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; SEC14 family

Synonyms:  SEC14L2,  SEC14L2p,  hSEC14L2,  A0A024R1I5,  B3KRD8 ...

Linkouts:  STRING  Pharos  UniProt