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.SREBF1 (Sterol Regulatory Element Binding Transcription Factor 1) is a Protein Coding gene. Diseases associated with SREBF1 include Fatty Liver Disease and Smith-Magenis Syndrome. Among its related pathways are Apoptosis and survival Caspase cascade and Circadian rythm related genes. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and chromatin binding. An important paralog of this gene is SREBF2. Please contact our support expert at support@clementiabiotech.com for data sheet, manuals & quote.

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