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Gene: CLN8 (CLN8 transmembrane ER and ERGIC protein) Homo sapiens
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Symbol: CLN8
Name: 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]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: C8orf61; ceroid-lipofuscinosis, neuronal 8; ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation); chromosome 8 open reading frame 61; EPMR; FLJ39417; putative uncharacterized protein C8orf61; TLCD6
Orthologs:
Mus musculus (house mouse) : Cln8 (ceroid-lipofuscinosis, neuronal 8)  MGI  Alliance
Rattus norvegicus (Norway rat) : Cln8 (CLN8, transmembrane ER and ERGIC protein)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Cln8 (CLN8 transmembrane ER and ERGIC protein)
Pan paniscus (bonobo/pygmy chimpanzee) : CLN8 (CLN8 transmembrane ER and ERGIC protein)
Canis lupus familiaris (dog) : CLN8 (CLN8 transmembrane ER and ERGIC protein)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Cln8 (CLN8 transmembrane ER and ERGIC protein)
Sus scrofa (pig) : CLN8 (CLN8 transmembrane ER and ERGIC protein)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3881,755,778 - 1,786,570 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh3781,703,944 - 1,734,736 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3681,699,277 - 1,722,143 (+)NCBINCBI36hg18NCBI36
Build 3481,699,347 - 1,719,857NCBI
Celera81,654,899 - 1,677,784 (+)NCBI
Cytogenetic Map8p23.3NCBI
HuRef81,526,501 - 1,549,279 (+)NCBIHuRef
CHM1_181,711,562 - 1,734,347 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
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References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Sequence

Nucleotide Sequences
Protein Sequences
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Clinical Variants

Additional Information

External Database Links
Nomenclature History
 
More on CLN8
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 1346223
Created: 2005-03-08
Species: Homo sapiens
Last Modified: 2019-10-01
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.