The CLN8 gene provides instructions for making a protein whose precise function is not known but that is thought to play a transport role within cells. Specifically, the CLN8 protein likely helps to move materials in and out of a cell structure called the endoplasmic reticulum, which is involved in protein production, processing, and transport. The CLN8 protein may also play a role in helping the endoplasmic reticulum regulate levels of fats (lipids) in cells. In certain cells, including nerve cells, the CLN8 protein is thought to be active outside of the endoplasmic reticulum, but its function is unknown.
Other Names
C8orf61; ceroid-lipofuscinosis, neuronal 8; ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation); CLN8_HUMAN; EPMR; FLJ39417
Related Genetics Topics
Identifiers
- NCBI Gene: 2055
- OMIM: 607837
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
