CLIC2

Description

The CLIC2 (chloride intracellular channel 2) is a protein-coding gene located on chromosome X.

Chloride intracellular channel protein 2 (CLIC2) is a protein encoded by the CLIC2 gene in humans. Chloride channels play crucial roles in various cellular processes, including maintaining cell membrane potential, facilitating transepithelial transport, regulating intracellular pH, and controlling cell volume. CLIC2 belongs to the p64 family and is found in fetal liver and adult skeletal muscle tissues. The CLIC2 gene is located within a region on chromosome X that is associated with incontinentia pigmenti.

CLIC2 can insert into cell membranes and form chloride ion channels. The channel's activity is influenced by pH levels. Membrane insertion appears to be regulated by redox conditions, potentially occurring only under oxidizing circumstances. CLIC2 modulates the activity of RYR2, a calcium release channel, and inhibits calcium influx. These findings are supported by research published in PubMed IDs: 15147738, 15916532, and 17945253.

CLIC2 is also known as CLCNL2, CLIC2b, MRXS32, XAP121.

Associated Diseases

• X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome
• Mental retardation, X-linked, syndromic 32