CLN8

GENE INFORMATION

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Gene name

CLN8 (HGNC Symbol)

Synonyms

C8orf61, EPMR, FLJ39417

Description

ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation) (HGNC Symbol)

Entrez gene summary

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 progressive epilepsy with mental retardation (EMPR), 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 2008]

Chromosome

8 (Chromosome progress)

Cytoband

p23.3

Chromosome location (bp)

1703944 - 1734738

Ensembl

ENSG00000182372 (version 73.37)

Entrez gene

2055

UniProt

Q9UBY8 (UniProt - Evidence at protein level)

neXtProt

NX_Q9UBY8

Antibodypedia

CLN8 antibodies
 

PROTEIN VIEW

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CLN8-001
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

CLN8-001 ENSP00000328182
ENST00000331222
Q9UBY8
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