Gene: CLN3

Alternate names for this Gene: BTN1|BTS|JNCL

Gene Summary: This gene encodes a protein that is involved in lysosomal function. Mutations in this, as well as other neuronal ceroid-lipofuscinosis (CLN) genes, cause neurodegenerative diseases commonly known as Batten disease or collectively known as neuronal ceroid lipofuscinoses (NCLs). Many alternatively spliced transcript variants have been found for this gene.

Gene is located in Chromosome: 16

Location in Chromosome : 16p12.1

Description of this Gene: CLN3 lysosomal/endosomal transmembrane protein, battenin

Type of Gene: protein-coding

Gene: APOBR

Alternate names for this Gene: APOB100R|APOB48R

Gene Summary: Apolipoprotein B48 receptor is a macrophage receptor that binds to the apolipoprotein B48 of dietary triglyceride (TG)-rich lipoproteins. This receptor may provide essential lipids, lipid-soluble vitamins and other nutrients to reticuloendothelial cells. If overwhelmed with elevated plasma triglyceride, the apolipoprotein B48 receptor may contribute to foam cell formation, endothelial dysfunction, and atherothrombogenesis.

Gene is located in Chromosome: 16

Location in Chromosome : 16p12.1

Description of this Gene: apolipoprotein B receptor

Type of Gene: protein-coding