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SIM1 - SIM bHLH transcription factor 1
- Synonym(s) : bHLHe14
- Previous symbols and names : Single-minded homolog 1 (Drosophila), single-minded (Drosophila) homolog 1, single-minded family bHLH transcription factor 1, single-minded homolog 1 (Drosophila)
- Type : gene with protein product
- Chromosomal location : 6q16.3
- OMIM: 603128
- HGNC: 10882
- UniProtKB: P81133
- Genatlas: SIM1
- GenCC: SIM1
- Ensembl: ENSG00000112246
- IUPHAR-DB: -
- Reactome: -
- LOVD: SIM1
Diseases list
- Disease-causing germline mutation(s) (loss of function) in Obesity due to SIM1 deficiency
ORPHA:369873 
- Disease-causing germline mutation(s) (loss of function) in SIM1-related Prader-Willi-like syndrome
ORPHA:398079 - Role in the phenotype of 6q16 microdeletion syndrome
ORPHA:171829
: AssessedAdditional information
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