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Target intelligence / Profile preview
Insulin gene (INS)
- Target
- INS
- Molecular classification
- Gene, Hormone precursor gene, Other
01
Overview
The insulin gene (INS) is a small, protein-coding gene spanning approximately 1,425 base pairs on human chromosome 11. It comprises three exons, two introns, and encodes a 110-amino acid preproinsulin precursor protein that is processed to mature insulin in pancreatic beta cells. The insulin protein is a peptide hormone responsible for regulating glucose, fat, and protein metabolism by promoting glucose uptake into cells. Dominant mutations in the insulin gene can cause neonatal-onset diabetes due to toxic misfolding of proinsulin. While the gene itself is not a direct therapeutic target, its mutations serve as diagnostic biomarkers in select forms of diabetes.
- Other names
- INS geneInsulin locusInsulin polypeptide gene
02
Biological functions
Encodes preproinsulin/proinsulin/insulin precursorRegulation of hormone synthesisOther
03
Disease associations
Monogenic diabetes (e.g., permanent neonatal-onset diabetes caused by dominant mutations in the insulin gene)Other genetic forms of diabetes mellitusOther pancreatic beta-cell dysfunction syndromes
04
Safety considerations
Gene therapy safety (if attempted to target mutations)Misdiagnosis from genetic variants in INS gene
05
Biomarkers
INS gene mutations can be biomarkers for monogenic diabetes or neonatal diabetesGene expression levels in research studies for diabetes risk
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