Battenin is a
protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residue (biochemistry), residues. Proteins perform a vast array of functions within organisms, including Enzyme catalysis, catalysing metab ...
that in humans is encoded by the ''CLN3''
gene
In biology, the word gene has two meanings. The Mendelian gene is a basic unit of heredity. The molecular gene is a sequence of nucleotides in DNA that is transcribed to produce a functional RNA. There are two types of molecular genes: protei ...
located on
chromosome 16.
Battenin is not clustered into any
Pfam clan, but it is included in the
TCDB suggesting that it is a transporter.
In humans, it belongs to the
atypical SLCs
Atypical Solute Carrier Families (Atypical SLCs) are novel plausible secondary active or facilitative transporter proteins that share ancestral background with the known solute carrier families (SLCs). However, they have not been assigned a name a ...
due to its structural and phylogenetic similarity to other
SLC transporters.
Function
Battenin is involved in
lysosomal 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, 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