Ceroid-lipofuscinosis neuronal protein 6 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, res ...
that in humans is encoded by the ''CLN6''
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 ...
.
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
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 ...
to promote their transfer to the
Golgi complex
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 i ...
.
The
EGRESS complex is composed of CLN6 and
CLN8
Protein CLN8 is a protein that in humans is encoded by the ''CLN8'' gene.
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- ...
proteins.
Loss-of-function mutations in CLN6 result in inefficient 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 ...
and diminished levels of the enzymes at the
lysosome
A lysosome () is a membrane-bound organelle found in many animal cells. They are spherical vesicles that contain hydrolytic enzymes that can break down many kinds of biomolecules. A lysosome has a specific composition, of both its membrane p ...
.
See also
*
Batten disease
Batten disease is a fatal disease of the nervous system that typically begins in childhood. Onset of symptoms is usually between 5 and 10 years of age. Often, it is autosomal recessive. It is the common name for a group of disorders called the n ...
References
External links
GeneReviews/NIH/NCBI/UW entry on Neuronal Ceroid-Lipofuscinoses*
Further reading
*
*
*
*
*
*
*
*
*
*
*
*
*
*
*
{{gene-15-stub