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Target intelligence / Profile preview
Spastic ataxia of Charlevoix-Saguenay pseudogene (LOC100421658)
- Target
- LOC100421658
- Molecular classification
- Pseudogene
01
Overview
The spastic ataxia of Charlevoix-Saguenay pseudogene (LOC100421658, ENSG00000256254) is a non-functional genomic locus similar in sequence to the SACS gene, which encodes sacsin, a protein involved in organizing neurofilaments within neurons. Mutations in the functional SACS gene—not this pseudogene—cause autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), a severe neurodegenerative disorder characterized by spasticity, ataxia, peripheral neuropathy, muscle wasting, and progressive neurological decline. The pseudogene itself has no known biological or pathological function and is not considered a therapeutic or diagnostic target[4][3][1].
- Other names
- Spastic ataxia of Charlevoix-Saguenay (sacsin) pseudogeneLOC100421658ENSG00000256254Charlevoix-Saguenay spastic ataxia pseudogene
02
Mechanism of action
None
03
Biological functions
None (as a pseudogene, it does not code for a functional protein)
04
Disease associations
None (the protein-encoding SACS gene, not this pseudogene, is implicated in Charlevoix-Saguenay spastic ataxia)
05
Biomarkers
None reported for pseudogene; functional SACS gene may be used in diagnostic genetic testing
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