CLN6

CLN6
Identifiers
AliasesCLN6, CLN4A, HsT18960, nclf, ceroid-lipofuscinosis, neuronal 6, late infantile, variant, transmembrane ER protein, CLN6 transmembrane ER protein, CLN6A
External IDsOMIM: 606725; MGI: 2159324; HomoloGene: 9898; GeneCards: CLN6; OMA:CLN6 - orthologs
Orthologs
SpeciesHumanMouse
Entrez

54982

76524

Ensembl

n/a

ENSMUSG00000032245

UniProt

Q9NWW5

n/a

RefSeq (mRNA)

NM_017882

NM_001033175

RefSeq (protein)

NP_060352

n/a

Location (UCSC)n/aChr 9: 62.75 – 62.76 Mb
PubMed search[2][3]
Wikidata
View/Edit HumanView/Edit Mouse

Ceroid-lipofuscinosis neuronal protein 6 is a protein that in humans is encoded by the CLN6 gene.[4][5][6]

The CLN6 protein is part of the EGRESS complex (ER-to-Golgi relaying of enzymes of the lysosomal system), which recruits lysosomal enzymes at the endoplasmic reticulum to promote their transfer to the Golgi complex.[7] The EGRESS complex is composed of CLN6 and CLN8 proteins.[7] Loss-of-function mutations in CLN6 result in inefficient export of lysosomal enzymes from the endoplasmic reticulum and diminished levels of the enzymes at the lysosome.[7]

See also

References

  1. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000032245 – Ensembl, May 2017
  2. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  3. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ Sharp JD, Wheeler RB, Lake BD, Savukoski M, Jarvela IE, Peltonen L, Gardiner RM, Williams RE (Jul 1997). "Loci for classical and a variant late infantile neuronal ceroid lipofuscinosis map to chromosomes 11p15 and 15q21-23". Hum Mol Genet. 6 (4): 591–5. doi:10.1093/hmg/6.4.591. PMID 9097964.
  5. ^ Wheeler RB, Sharp JD, Schultz RA, Joslin JM, Williams RE, Mole SE (Jan 2002). "The gene mutated in variant late-infantile neuronal ceroid lipofuscinosis (CLN6) and in nclf mutant mice encodes a novel predicted transmembrane protein". Am J Hum Genet. 70 (2): 537–42. doi:10.1086/338708. PMC 384927. PMID 11727201.
  6. ^ "Entrez Gene: CLN6 ceroid-lipofuscinosis, neuronal 6, late infantile, variant".
  7. ^ a b c Bajaj L, Sharma J, di Ronza A, Zhang P, Eblimit A, Pal R, Roman D, Collette JR, Booth C, Chang KT, Sifers RN, Jung SY, Weimer JM, Chen R, Schekman RW, Sardiello M (Jun 2020). "A CLN6-CLN8 complex recruits lysosomal enzymes at the ER for Golgi transfer". J Clin Invest. 130 (8): 4118–4132. doi:10.1172/JCI130955. PMC 7410054. PMID 32597833.

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