INS - Insulin - human protein (Medical)
 
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Protein
Gene
References

 
INS »  Insulin
 
Cleaved into:  Insulin A chain; Insulin B chain.
Gene name:  INS
Family name: Insulin
Entry whose protein(s) existence is based on evidence at protein level
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1 532 1
GENE REF ISO

Displayed isoform: Iso 1

 
 

Medical

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Disease 
Hyperproinsulinemia, familial (FHPRI) [MIM:176730]: An autosomal dominant condition characterized by elevated levels of serum proinsulin-like material. The disease is caused by mutations affecting the gene represented in this entry.  
  • CuratedUniProtKB
Diabetes mellitus, insulin-dependent, 2 (IDDM2) [MIM:125852]: A multifactorial disorder of glucose homeostasis that is characterized by susceptibility to ketoacidosis in the absence of insulin therapy. Clinical features are polydipsia, polyphagia and polyuria which result from hyperglycemia-induced osmotic diuresis and secondary thirst. These derangements result in long-term complications that affect the eyes, kidneys, nerves, and blood vessels. The disease is caused by mutations affecting the gene represented in this entry.  
  • CuratedUniProtKB
Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]: A rare form of diabetes distinct from childhood-onset autoimmune diabetes mellitus type 1. It is characterized by insulin-requiring hyperglycemia that is diagnosed within the first months of life. Permanent neonatal diabetes requires lifelong therapy. The disease is caused by mutations affecting the gene represented in this entry.  
  • CuratedUniProtKB
Maturity-onset diabetes of the young 10 (MODY10) [MIM:613370]: A form of diabetes that is characterized by an autosomal dominant mode of inheritance, onset in childhood or early adulthood (usually before 25 years of age), a primary defect in insulin secretion and frequent insulin-independence at the beginning of the disease. The disease is caused by mutations affecting the gene represented in this entry.  
  • CuratedUniProtKB
According to Orphanet, this protein is involved in the following diseases:
MODY syndrome  552  
Permanent neonatal diabetes mellitus  99885  
Pharmaceutical 
Available under the names Humulin or Humalog (Eli Lilly) and Novolin (Novo Nordisk). Used in the treatment of diabetes. Humalog is an insulin analog with 52-Lys-Pro-53 instead of 52-Pro-Lys-53.  
  • CuratedUniProtKB
 

Keywords

Disease 
Diabetes mellitus  definition   [KW-0219]
Disease mutation  definition   [KW-0225]
Technical term 
Pharmaceutical  definition   [KW-0582]
Reference proteome  definition   [KW-1185]
 

Further external links

Organism-specific databases
CTD: 3630
MIM: 606176
MIM: 125852
MIM: 613370
MIM: 176730
PharmGKB: PA201
Polymorphism databases
DMDM: 124617
Protein family/group databases
Allergome: 2121 [ Hom s Insulin ]
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.