QuickView for CLN3 (gene)

Gene Symbol:

CLN3 Homo sapiens

Full name:

CLN3, battenin

Synonyms:

BTN1, BTS, JNCL, battenin, batten disease protein, ceroid-lipofuscinosis, neuronal 3

Genomic Location:

Chr 16: 28396101-28411124

Description:

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 ...

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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.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  D. melanogaster ,  C. elegans ,  Saccharomyces cerevisiae ,  Macaca mulatta ,  Schizosaccharomyces pombe ,  Canis lupus familiaris ,  Danio rerio

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

USF_Q6 ,  TCANNTGAY_SREBP1_01 ,  ARNT_01 ,  CACGTG_MYC_Q2 ,  MAX_01 ,  ARNT_02 ,  SREBP1_01 ,  MYCMAX_01 ,  CTTTAAR_UNKNOWN ,  MEIS1_01 ,  USF_01 ,  USF_Q6_01 ,  SCGGAAGY_ELK1_02 ,  CTGYNNCTYTAA_UNKNOWN ,  USF_02 ,  CCTNTMAGA_UNKNOWN

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Cytogenetic Map:

16p12.1

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