What does CAPN10 gene do?
By Rachel Newton
What does CAPN10 gene do?
Calpain-10 (NIDDM1) as a Susceptibility Gene for Common Type 2 Diabetes. We show that the diabetes gene calpain-10 (CAPN10) plays a role in atherosclerosis, insulin sensitivity and insulin secretion in a population enriched for atherosclerosis and insulin resistance.
What chromosome is CAPN10 located on?
CAPN10, located on chromosome 2q37. 3, comprises 15 exons spanning 31 kb of genomic sequence that encodes a 672-amino-acid intracellular protease.
What does calpain 10 do?
Calpain-10 is also an important molecule in the beta-cell. It is likely to be a determinant of fuel sensing and insulin exocytosis, with actions at the mitochondria and plasma membrane respectively. We postulate that the multiple actions of calpain-10 may relate to its different protein isoforms.
What is TCF7L2?
Function. TCF7L2 is a transcription factor influencing the transcription of several genes thereby exerting a large variety of functions within the cell. It is a member of the TCF family that can form a bipartite transcription factor (β-catenin/TCF) alongside β-catenin.
What type of protein does the calpain 10 gene encode?
For example, the calpain-10 protein (intracellular Ca(2+)-dependent cysteine protease) may play a role in glucose metabolism, pancreatic β-cell function, and regulation of thermogenesis. Several CAPN10 polymorphic sites have been studied for their potential use as risk markers for T2D.
What type of protein does the calpain 10 gene encode and what disease is it associated with?
GeneCards Summary for CAPN10 Gene CAPN10 (Calpain 10) is a Protein Coding gene. Diseases associated with CAPN10 include Type 1 Diabetes Mellitus 2 and Polycystic Ovary Syndrome.
What is Pitt-Hopkins Syndrome?
Pitt-Hopkins syndrome is a condition characterized by intellectual disability and developmental delay, breathing problems, recurrent seizures (epilepsy), and distinctive facial features. People with Pitt-Hopkins syndrome have moderate to severe intellectual disability.
