SREBF1
Chr 17ADsterol regulatory element binding transcription factor 1
The protein is a transcription factor that regulates genes involved in cholesterol biosynthesis and lipid homeostasis, becoming activated when sterol concentrations are low. Mutations cause ichthyosis with follicular atrichia and photophobia syndrome as well as mucoepithelial dysplasia, inherited in an autosomal dominant pattern. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.45), and the associated conditions primarily affect skin and mucosal tissues.
Some data sources returned errors (1)
ncbi: Error: NCBI fetch failed: 429 https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esearch.fcgi
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
The Badonyi & Marsh model scores dominant-negative highest, but genomic evidence most strongly supports loss-of-function (haploinsufficiency) as the primary mechanism.
Literature Evidence
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
SREBF1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
The Role of Luteolin Supplementation in Cellular Metabolism of Myocytes and Fat Cells, Physical Performance, and Body Composition in Athletes.
ENROLLING BY INVITATIONA Randomized, Double-Blind, Placebo Controlled Study to Assess the Efficacy and Safety of SNP-610 for the Treatment of Patients With Non-alcoholic Steatohepatitis
NOT YET RECRUITINGExternal Resources
Links to major genomics databases and tools