Protein CLN8 is a
protein that in humans is encoded by the CLN8gene.[5][6]
Molecular biology
This gene encodes a transmembrane protein that localizes to the
endoplasmic reticulum (ER) and recycles between the ER and the
Golgi apparatus via
COPII- and
COPI-coated vesicles.[7] CLN8 protein functions as a cargo receptor for lysosomal soluble proteins in the ER.[7] CLN8 proteins pair with
CLN6 proteins to form the
EGRESS complex (ER-to-Golgi relaying of enzymes of the lysosomal system), the functional unit responsible for the export of lysosomal enzymes from the
endoplasmic reticulum.[8]
^"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.
^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.
PMID10508524.
S2CID23920094.
Winter E, Ponting CP (2002). "TRAM, LAG1 and CLN8: members of a novel family of lipid-sensing domains?". Trends Biochem. Sci. 27 (8): 381–3.
doi:
10.1016/S0968-0004(02)02154-0.
PMID12151215.