CAPN10
Description
The CAPN10 (calpain 10) is a protein-coding gene located on chromosome 2.
Calpain-10 is a protein encoded by the CAPN10 gene in humans. Calpains are a family of calcium-dependent, cysteine proteases. Typical calpains are heterodimers with a small subunit and a large subunit. The large subunit has four domains: domain I (regulatory), domain II (protease), domain III (linker), and domain IV (calmodulin-like calcium-binding). Calpain-10 is atypical because it lacks the calmodulin-like calcium-binding domain and has a divergent C-terminal domain. It cannot heterodimerize with the small subunit. It is similar in organization to calpains 5 and 6. The CAPN10 gene is associated with type 2 diabetes (NIDDM) and is located within the NIDDM1 region.
CAPN10 is also known as CANP10, NIDDM1.
Associated Diseases
- type 2 diabetes mellitus
- Parkinson disease
- acheiropody
- acromesomelic dysplasia 2C, Hunter-Thompson type
- acromesomelic dysplasia 2A
- tibia, hypoplasia or aplasia of, with polydactyly
- hypoparathyroidism, familial isolated, 2
- Blount disease
- Fuhrmann syndrome
- syndactyly type 4
- laurin-Sandrow syndrome
- Osebold-Remondini syndrome
- spondyloepimetaphyseal dysplasia, Missouri type
- acromesomelic dysplasia 2B
