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Gene : CLN8 Homo sapiens

Name  ? CLN8 transmembrane ER and ERGIC protein Cytological Location  8p23.3
Brief Description  CLN8 transmembrane ER and ERGIC protein
Description  This gene encodes a transmembrane protein belonging to a family of proteins containing TLC domains, which are postulated to function in lipid synthesis, transport, or sensing. The protein localizes to the endoplasmic reticulum (ER), and may recycle between the ER and ER-Golgi intermediate compartment. Mutations in this gene are associated with a disorder characterized by progressive epilepsy with cognitive disabilities (EPMR), which is a subtype of neuronal ceroid lipofuscinoses (NCL). Patients with mutations in this gene have altered levels of sphingolipid and phospholipids in the brain. [provided by RefSeq, Jul 2017]
  • synonyms:
  • OTTHUMG00000090343,
  • AF123761,
  • CLN8, transmembrane ER and ERGIC protein,
  • epilepsy, progressive with mental retardation,
  • HGNC:2079,
  • C8orf61,
  • CLN8,
  • chromosome 8 open reading frame 61,
  • TLCD6,
  • EPMR,
  • TLCD6,
  • C8orf61,
  • FLJ39417,
  • EPMR,
  • NM_018941,
  • uc003wpo.5,
  • ceroid-lipofuscinosis, neuronal 8
  • identifiers:
  • 2055,
  • ENSG00000182372,
  • CLN8

Genome feature

Region: gene ? Length: 30793  
Location: 8:1755778-1786570 Cyto location: 8p23.3


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0 Pathways

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

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Proteins

Gene --> Proteins.

SNPs

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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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Expression

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

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Gene --> GO terms.

 

Other

0 Pathways

3756 SN Ps

5 Cross References

17 Data Sets

14 Homologues

0 Located Features

97 Rna Seq Results