QuickView for CLN5 (gene)

Gene Symbol:

CLN5 Homo sapiens

Full name:

CLN5, intracellular trafficking protein

Synonyms:

NCL, ceroid-lipofuscinosis neuronal protein 5, ceroid-lipofuscinosis, neuronal 5

Genomic Location:

Chr 13: 76462796-76474653

Description:

This gene is one of eight which have been associated with neuronal ceroid lipofuscinoses (NCL). Also referred to as Batten disease, NCL comprises a class of autosomal recessive, neurodegenerative disorders affecting children. The genes responsible likely encode proteins involved in the degradation of post-translationally modified proteins in lysoso...

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This gene is one of eight which have been associated with neuronal ceroid lipofuscinoses (NCL). Also referred to as Batten disease, NCL comprises a class of autosomal recessive, neurodegenerative disorders affecting children. The genes responsible likely encode proteins involved in the degradation of post-translationally modified proteins in lysosomes. The primary defect in NCL disorders is thought to be associated with lysosomal storage function.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  Macaca mulatta ,  Gallus gallus ,  Pan troglodytes ,  Canis lupus familiaris ,  Bos taurus ,  Danio rerio

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

RTAAACA_FREAC2_01 ,  GATA1_01 ,  P53_DECAMER_Q2 ,  AAAYWAACM_HFH4_01 ,  HFH1_01 ,  CEBP_Q2_01 ,  STAT_Q6 ,  TATAAA_TATA_01 ,  CEBPB_01 ,  HNF4_Q6 ,  CATRRAGC_UNKNOWN ,  HFH8_01 ,  OCT1_06 ,  ELK1_01 ,  TTGTTT_FOXO4_01 ,  WCAANNNYCAG_UNKNOWN ,  CTTTGT_LEF1_Q2 ,  YNGTTNNNATT_UNKNOWN

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Cytogenetic Map:

13q22.3

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