Aliases for SREBF2 Gene
External Ids for SREBF2 Gene
Previous GeneCards Identifiers for SREBF2 Gene
This gene encodes a member of the a ubiquitously expressed transcription factor that controls cholesterol homeostasis by regulating transcription of sterol-regulated genes. The encoded protein contains a basic helix-loop-helix-leucine zipper (bHLH-Zip) domain and binds the sterol regulatory element 1 motif. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
GeneCards Summary for SREBF2 Gene
SREBF2 (Sterol Regulatory Element Binding Transcription Factor 2) is a Protein Coding gene. Diseases associated with SREBF2 include Avascular Necrosis Of The Femoral Head and Homozygous Familial Hypercholesterolemia. Among its related pathways are Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha) and Metabolism. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and protein dimerization activity. An important paralog of this gene is SREBF1.
UniProtKB/Swiss-Prot for SREBF2 Gene
Transcriptional activator required for lipid homeostasis. Regulates transcription of the LDL receptor gene as well as the cholesterol and to a lesser degree the fatty acid synthesis pathway (By similarity). Binds the sterol regulatory element 1 (SRE-1) (5-ATCACCCCAC-3) found in the flanking region of the LDRL and HMG-CoA synthase genes.