CLN8

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Ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)
Identifiers
Symbols CLN8 ; C8orf61; EPMR
External IDs OMIM607837 MGI1349447 HomoloGene10340 GeneCards: CLN8 Gene
Orthologs
Species Human Mouse
Entrez 2055 26889
Ensembl ENSG00000182372 ENSMUSG00000026317
UniProt Q9UBY8 Q9QUK3
RefSeq (mRNA) NM_001034061 NM_012000
RefSeq (protein) NP_061764 NP_036130
Location (UCSC) Chr 8:
1.7 – 1.73 Mb
Chr 8:
14.88 – 14.9 Mb
PubMed search [1] [2]

Protein CLN8 is a protein that in humans is encoded by the CLN8 gene.[1][2]

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.[2]

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. ^ 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. 
  2. ^ a b "Entrez Gene: CLN8 ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)". 

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