CALB2


Description

The CALB2 (calbindin 2) is a protein-coding gene located on chromosome 16.

Calretinin, also known as calbindin 2 (formerly 29 kDa calbindin), is a calcium-binding protein involved in calcium signaling. In humans, the calretinin protein is encoded by the CALB2 gene.

This gene encodes an intracellular calcium-binding protein belonging to the troponin C superfamily. Members of this protein family have six EF-hand domains which bind calcium. This protein plays a role in diverse cellular functions, including message targeting and intracellular calcium buffering. Calretinin is abundantly expressed in neurons including retina (which gave it the name) and cortical interneurons. Expression was found in different neurons than that of the similar vitamin D-dependent calcium-binding protein, calbindin-28kDa. Calretinin has an important role as a modulator of neuronal excitability including the induction of long-term potentiation. Loss of expression of calretinin in hippocampal interneurons has been suggested to be relevant in temporal lobe epilepsy. It is expressed in a number of other locations including hair follicles.

CALB2 is also known as CAB29, CAL2, CR.

Associated Diseases



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