Disease-gene associations mined from literature

Literature associating SIL1 and familial isolated deficiency of vitamin E

SIL1 [ENSP00000378294]

Nucleotide exchange factor SIL1; Required for protein translocation and folding in the endoplasmic reticulum (ER). Functions as a nucleotide exchange factor for the ER lumenal chaperone HSPA5; Belongs to the SIL1 family.

Synonyms:  SIL1,  SIL1p,  hSIL1,  A0RZB6,  A0RZG6 ...

Linkouts:  STRING  Pharos  UniProt