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Gene : CLN6 Homo sapiens

Name  ? CLN6 transmembrane ER protein Cytological Location  15q23
Brief Description  CLN6 transmembrane ER protein
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 lysosomes. The primary defect in NCL disorders is thought to be associated with lysosomal storage function. [provided by RefSeq, Oct 2008]
  • synonyms:
  • OTTHUMG00000133286,
  • CLN6, transmembrane ER protein,
  • NM_017882,
  • HsT18960,
  • uc002arf.3,
  • AK000568,
  • ceroid-lipofuscinosis, neuronal 6, late infantile, variant,
  • CLN4A,
  • CLN6,
  • HsT18960,
  • nclf,
  • FLJ20561,
  • nclf,
  • HGNC:2077
  • identifiers:
  • 54982,
  • ENSG00000128973,
  • CLN6

Genome feature

Region: gene ? Length: 22737  
Location: 15:68206992-68229728 reverse strand Cyto location: 15q23


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Function

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0 Pathways

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.

Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

2 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Interactions

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Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.

 

Other

0 Pathways

3753 SN Ps

5 Cross References

18 Data Sets

4 Homologues

0 Located Features

97 Rna Seq Results