(CLN3) ceroid-lipofuscinosis, neuronal 3 [Homo sapiens]
Gene
Transcript(s)
Exon(s)
Protein(s)
Gene
 Accession  30868
 Official symbol  CLN3
 Official name  ceroid-lipofuscinosis, neuronal 3
 Gene type  protein-coding
 Organism  Homo sapiens
 Location  chromosome 16 (NC_000016.8) : 28396101...28411125  (-)
 Map  16p12.1
 Length  15024  nt
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Alternative name(s) and Synynom(s) top
Synonyms MGC102840; JNCL; BTS; BATTENIN
Names Batten, Spielmeyer-Vogt disease
External Links top
Ensembl ENSG00000188603
GeneID 1201
HGNC 2074
HPRD 08450
Comment top
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].
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