From Wikipedia, the free encyclopedia
Protein-coding gene in humans
CLN6 Identifiers
Aliases
CLN6 , CLN4A, HsT18960, nclf, ceroid-lipofuscinosis, neuronal 6, late infantile, variant, transmembrane ER protein, CLN6 transmembrane ER protein, CLN6AExternal IDs
OMIM :
606725
MGI :
2159324
HomoloGene :
9898
GeneCards :
CLN6
Wikidata
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 (E R-to-G olgi r elaying of e nzymes of the lys osomal s ystem), 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
^
a
b
c
GRCm38: Ensembl release 89: ENSMUSG00000032245 –
Ensembl , May 2017
^
"Human PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .
^
"Mouse PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .
^ 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 .
^ 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 .
^
"Entrez Gene: CLN6 ceroid-lipofuscinosis, neuronal 6, late infantile, variant" .
^
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 .
Further reading
Dawson G, Cho S (2000). "Batten's disease: clues to neuronal protein catabolism in lysosomes". J. Neurosci. Res . 60 (2): 133–40.
doi :
10.1002/(SICI)1097-4547(20000415)60:2<133::AID-JNR1>3.0.CO;2-3 .
PMID
10740217 .
S2CID
28786470 .
Holopainen JM, Saarikoski J, Kinnunen PK, Järvelä I (2001).
"Elevated lysosomal pH in neuronal ceroid lipofuscinoses (NCLs)" . Eur. J. Biochem . 268 (22): 5851–6.
doi :
10.1046/j.0014-2956.2001.02530.x .
PMID
11722572 .
Gao H, Boustany RM, Espinola JA, et al. (2002).
"Mutations in a novel CLN6-encoded transmembrane protein cause variant neuronal ceroid lipofuscinosis in man and mouse" . Am. J. Hum. Genet . 70 (2): 324–35.
doi :
10.1086/338190 .
PMC
384912 .
PMID
11791207 .
Strausberg RL, Feingold EA, Grouse LH, et al. (2003).
"Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences" . Proc. Natl. Acad. Sci. U.S.A . 99 (26): 16899–903.
Bibcode :
2002PNAS...9916899M .
doi :
10.1073/pnas.242603899 .
PMC
139241 .
PMID
12477932 .
Teixeira CA, Espinola J, Huo L, et al. (2003). "Novel mutations in the CLN6 gene causing a variant late infantile neuronal ceroid lipofuscinosis". Hum. Mutat . 21 (5): 502–8.
doi :
10.1002/humu.10207 .
PMID
12673792 .
S2CID
27128687 .
Sharp JD, Wheeler RB, Parker KA, et al. (2003).
"Spectrum of CLN6 mutations in variant late infantile neuronal ceroid lipofuscinosis" . Hum. Mutat . 22 (1): 35–42.
doi :
10.1002/humu.10227 .
PMID
12815591 .
S2CID
25698616 .
Ota T, Suzuki Y, Nishikawa T, et al. (2004).
"Complete sequencing and characterization of 21,243 full-length human cDNAs" . Nat. Genet . 36 (1): 40–5.
doi :
10.1038/ng1285 .
PMID
14702039 .
Heine C, Koch B, Storch S, et al. (2004).
"Defective endoplasmic reticulum-resident membrane protein CLN6 affects lysosomal degradation of endocytosed arylsulfatase A." J. Biol. Chem . 279 (21): 22347–52.
doi :
10.1074/jbc.M400643200 .
PMID
15010453 .
Mole SE, Michaux G, Codlin S, et al. (2004). "CLN6, which is associated with a lysosomal storage disease, is an endoplasmic reticulum protein". Exp. Cell Res . 298 (2): 399–406.
doi :
10.1016/j.yexcr.2004.04.042 .
PMID
15265688 .
Gerhard DS, Wagner L, Feingold EA, et al. (2004).
"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)" . Genome Res . 14 (10B): 2121–7.
doi :
10.1101/gr.2596504 .
PMC
528928 .
PMID
15489334 .
Siintola E, Topcu M, Kohlschütter A, et al. (2005). "Two novel CLN6 mutations in variant late-infantile neuronal ceroid lipofuscinosis patients of Turkish origin". Clin. Genet . 68 (2): 167–73.
doi :
10.1111/j.1399-0004.2005.00471.x .
PMID
15996215 .
S2CID
40168289 .
Otsuki T, Ota T, Nishikawa T, et al. (2007).
"Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries" . DNA Res . 12 (2): 117–26.
doi :
10.1093/dnares/12.2.117 .
PMID
16303743 .
Teixeira CA, Lin S, Mangas M, et al. (2006).
"Gene expression profiling in vLINCL CLN6-deficient fibroblasts: Insights into pathobiology" . Biochim. Biophys. Acta . 1762 (7): 637–46.
doi :
10.1016/j.bbadis.2006.06.002 .
PMID
16857350 .
Olsen JV, Blagoev B, Gnad F, et al. (2006).
"Global, in vivo, and site-specific phosphorylation dynamics in signaling networks" . Cell . 127 (3): 635–48.
doi :
10.1016/j.cell.2006.09.026 .
PMID
17081983 .
Heine C, Quitsch A, Storch S, et al. (2007). "Topology and endoplasmic reticulum retention signals of the lysosomal storage disease-related membrane protein CLN6". Mol. Membr. Biol . 24 (1): 74–87.
doi :
10.1080/09687860600967317 .
PMID
17453415 .
S2CID
35490146 .
External links