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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:
  • CLN8,
  • chromosome 8 open reading frame 61,
  • EPMR,
  • AF123761,
  • uc003wpo.5,
  • TLCD6,
  • HGNC:2079,
  • C8orf61,
  • ceroid-lipofuscinosis, neuronal 8,
  • epilepsy, progressive with mental retardation,
  • EPMR,
  • CLN8, transmembrane ER and ERGIC protein,
  • FLJ39417,
  • TLCD6,
  • C8orf61,
  • OTTHUMG00000090343,
  • NM_018941
  • 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

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]

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Expression

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

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Gene --> GO terms.

 

Other

0 Pathways

3753 SN Ps

5 Cross References

17 Data Sets

5 Homologues

0 Located Features

97 Rna Seq Results