Battenin 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, respo ...
that in humans is encoded by the ''CLN3''
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 ba ...
located on
chromosome 16.
Battenin is not clustered into any
Pfam
Pfam is a database of protein families that includes their annotations and multiple sequence alignments generated using hidden Markov models. The most recent version, Pfam 35.0, was released in November 2021 and contains 19,632 families.
Uses
...
clan, but it is included in the
TCDB suggesting that it is a transporter.
In humans, it belongs to the
atypical SLCs due to its structural and phylogenetic similarity to other
SLC transporters.
Function
Battenin is involved in
lysosomal
A lysosome () is a membrane-bound organelle found in many animal Cell (biology), cells. They are spherical Vesicle (biology and chemistry), vesicles that contain Hydrolysis, hydrolytic enzymes that can break down many kinds of biomolecules. A ly ...
function. Many alternatively spliced transcript variants have been found for this gene.
Battenin is a transmembrane protein predicted to be composed of 11 transmembrane helices,
yet no crystal structure is available.
Clinical significance
Mutations in this gene, as well as other neuronal ceroid-lipofuscinosis (CLN) genes, cause neurodegenerative diseases commonly known as
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 ...
, also known as Juvenile Neuronal Ceroid Lipofuscinosis (JNCL) or Juvenile Batten disease.
References
Further reading
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External links
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GeneReviews/NCBI/NIH/UW entry on Neuronal Ceroid-Lipofuscinoses*
{{Glycolipid/sphingolipid metabolism enzymes