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