SREBF1


This gene encodes a transcription factor that binds to the sterol regulatory element-1 (SRE1), which is a decamer flanking the low density lipoprotein receptor gene and some genes involved in sterol biosynthesis. The protein is synthesized as a precursor that is attached to the nuclear membrane and endoplasmic reticulum. Following cleavage, the mature protein translocates to the nucleus and activates transcription by binding to the SRE1. Sterols inhibit the cleavage of the precursor, and the mature nuclear form is rapidly catabolized, thereby reducing transcription. The protein is a member of the basic helix-loop-helix-leucine zipper (bHLH-Zip) transcription factor family. This gene is located within the Smith-Magenis syndrome region on chromosome 17. Alternatively spliced transcript variants have been described, but their full length sequences have not been determined.

Look up this gene in: LocusLink - PubMed - OMIM - GoldenPath - SNPper


SNP reports:Gene structure Annotated gene sequence
Allelic counts Genotype counts
Haplotypes Genotypes (prettybase)
Visual genotype Pairwise LD plot (D')


Output produced by CHIP bioinformatics tools funded by DGAP and Innate Immunity PGA.

© 2004, DGAP