CLN8

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CLN8
Identifiers
Aliases CLN8, C8orf61, EPMR, ceroid-lipofuscinosis, neuronal 8
External IDs MGI: 1349447 HomoloGene: 10340 GeneCards: CLN8
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001034061
NM_018941

NM_012000

RefSeq (protein)

NP_061764

NP_036130.1
NP_036130

Location (UCSC) Chr 8: 1.76 – 1.79 Mb Chr 8: 14.88 – 14.9 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

Protein CLN8 is a protein that in humans is encoded by the CLN8 gene.[3][4]

Molecular biology[edit]

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.[4]

Clinical[edit]

Mutations in this gene are associated with progressive epilepsy with mental retardation (EPMR), a subtype of neuronal ceroid lipofuscinosis (NCL). Patients with mutations in this gene have altered levels of sphingolipid and phospholipids in the brain.

References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ Ranta S, Zhang Y, Ross B, Lonka L, Takkunen E, Messer A, Sharp J, Wheeler R, Kusumi K, Mole S, Liu W, Soares MB, Bonaldo MF, Hirvasniemi A, de la Chapelle A, Gilliam TC, Lehesjoki AE (Oct 1999). "The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8". Nat Genet. 23 (2): 233–6. doi:10.1038/13868. PMID 10508524. 
  4. ^ a b "Entrez Gene: CLN8 ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)". 

External links[edit]

Further reading[edit]