Symbol
| SREBF1
| contributors: mct - updated : 02-09-2020
|
HGNC name
| sterol regulatory element binding transcription factor 1
|
HGNC id
| 11289
|
corresponding disease(s)
|
IFAP2
|
Other morbid association(s)
|
Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein 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
|
System | Type | Disorder | Pubmed |
digestive | liver | cirrhosis | |
modulation of SREBF1 activity by SIK proteins would provide an attractive means for the regulation of nonalcoholic fatty liver | diabete | metabolic syndrom | | |
reducing acetylation of SREBPF1 by targeting SIRT1 may be useful for treating metabolic disorders, including fatty liver, obesity, and type II diabetes | neurology | neurodegenerative | | |
suppressing SREBP1 activation may have a therapeutic value in Amyotrophic lateral sclerosis |
| | | |
| Srebf1 acetylation levels were highly elevated in diet-induced obese mice |