Cel gene

The CEL gene is located on chromosome 9q34.13 and codes for the bile salt-activated lipase (BAL; also: carboxyl-ester lipase). The enzyme BAL splits the cholesterol ester in the small intestine, which is taken in with food, into long-chain fatty acids and cholesterol. BAL is formed in acinar cells of the pancreas and in breast milk. In infants, BAL has been shown to break down monoglycerides into glycerol and fatty acids, which is important for the digestion of milk fats. Mutations in the CEL gene can cause enzyme deficiency and a form of hereditary diabetes mellitus(MODY 8).

1. Hardt P D et al (2003) High prevalence of exocrine pancreatic insufficiency in diabetes mellitus: a multicenter study screening fecal elastase 1 concentrations in 1,021 diabetic patients. Pancreatology 3: 395-402.
2. Torsvik J et al (2010) Mutations in the VNTR of the carboxyl-ester lipase gene (CEL) are a rare cause of monogenic diabetes. Hum. Gene. 127: 55-64.