Protein CLN8 is a
protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residues. Proteins perform a vast array of functions within organisms, including catalysing metabolic reactions, DNA replication, respon ...
that in humans is encoded by the ''CLN8''
gene
In biology, the word gene (from , ; "... Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a b ...
.
Molecular biology
This gene encodes a transmembrane protein that localizes to the
endoplasmic reticulum
The endoplasmic reticulum (ER) is, in essence, the transportation system of the eukaryotic cell, and has many other important functions such as protein folding. It is a type of organelle made up of two subunits – rough endoplasmic reticulum ( ...
(ER) and recycles between the ER and the
Golgi apparatus
The Golgi apparatus (), also known as the Golgi complex, Golgi body, or simply the Golgi, is an organelle found in most eukaryotic cells. Part of the endomembrane system in the cytoplasm, it packages proteins into membrane-bound vesicles ...
via
COPII- and
COPI-coated vesicles.
CLN8 protein functions as a cargo receptor for lysosomal soluble proteins in the ER.
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
The endoplasmic reticulum (ER) is, in essence, the transportation system of the eukaryotic cell, and has many other important functions such as protein folding. It is a type of organelle made up of two subunits – rough endoplasmic reticulum ( ...
.
Clinical
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
The brain is an organ that serves as the center of the nervous system in all vertebrate and most invertebrate animals. It consists of nervous tissue and is typically located in the head ( cephalization), usually near organs for special ...
.
References
External links
GeneReviews/NIH/NCBI/UW entry on Neuronal Ceroid-Lipofuscinoses*
Further reading
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