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FLASH GENE
Symbol SREBF1 contributors: mct - updated : 02-09-2020
HGNC name sterol regulatory element binding transcription factor 1
HGNC id 11289
ASSOCIATED DISORDERS
corresponding disease(s) IFAP2
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional       gain of function
significantly activated spinal cord tissue of both familial or sporadic ALS individuals, and this activation requires degradation of ER membrane resident protein INSIG1
Susceptibility
  • to obesity and type 2 diabetes
  • in early-onset ALS or female patients
  • Variant & Polymorphism other
  • polymorphisms are associated with obesity and type 2 diabetes
  • rs11868035 is likely to be associated with ALS in early-onset or female patients
  • Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    digestivelivercirrhosis
    modulation of SREBF1 activity by SIK proteins would provide an attractive means for the regulation of nonalcoholic fatty liver
    diabetemetabolic syndrom 
    reducing acetylation of SREBPF1 by targeting SIRT1 may be useful for treating metabolic disorders, including fatty liver, obesity, and type II diabetes
    neurologyneurodegenerative 
    suppressing SREBP1 activation may have a therapeutic value in Amyotrophic lateral sclerosis
    ANIMAL & CELL MODELS
  • Srebf1 acetylation levels were highly elevated in diet-induced obese mice