CALB1
Description
The CALB1 (calbindin 1) is a protein-coding gene located on chromosome 8.
Calbindin 1 is a protein that binds calcium and helps regulate its levels within cells. It's part of a family of calcium-binding proteins that includes calretinin. Calbindin 1 contains four active calcium-binding sites and two inactive sites. It's thought to help control calcium levels that rise when glutamate receptors are activated. Low levels of this protein have been observed in patients with Huntington's disease.
Calbindin 1 helps regulate calcium levels within cells. It can activate a membrane Ca(2+)-ATPase, which pumps calcium out of the cell, and a 3',5'-cyclic nucleotide phosphodiesterase, which breaks down signaling molecules.
CALB1 is also known as CALB, D-28K.
Associated Diseases
- substance abuse
- cancer
- Parkinson disease
- Alzheimer disease
- Angelman syndrome
- multiple sclerosis
- lysosomal storage disease
- spinocerebellar ataxia type 23
- Unverricht-Lundborg syndrome
- autosomal dominant sensory ataxia 1
- episodic ataxia type 5
- Dravet syndrome
- spinocerebellar ataxia type 35
