CLN8 : CLN8 transmembrane ER and ERGIC protein

Description

The CLN8 (CLN8 transmembrane ER and ERGIC protein) is a protein-coding gene located on chromosome 8.

The CLN8 gene provides instructions for making a protein whose exact function is unknown, but it is believed to be involved in transporting substances within cells. Specifically, the CLN8 protein likely assists in moving materials in and out of a cell structure called the endoplasmic reticulum, which is crucial for protein production, processing, and transport. The CLN8 protein might also play a role in helping the endoplasmic reticulum regulate fat levels (lipids) in cells. In some cells, including nerve cells, the CLN8 protein is thought to be active outside the endoplasmic reticulum, but its function in these locations remains unclear.

CLN8 could contribute to cell growth during the development of nerve cells and safeguard against cell death.

CLN8 is also known as C8orf61, EPMR, TLCD6.

Associated Diseases

• Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant
• Ceroid lipofuscinosis, neuronal, 8
• Progressive epilepsy-intellectual disability syndrome, Finnish type
• CLN8 disease