Gene Symbol | CLN3 |
Entrez Gene ID | 1201 |
Full Name | CLN3, battenin |
Synonyms | BTN1,BTS,JNCL |
General protein information |
|
Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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. [provided by RefSeq, Jul 2008]. |
Disorder MIM: | |
Disorder Html: | Ceroid lipofuscinosis, neuronal, 3, 204200 (3) |