Sacsin

SACS
Identifiers
Aliases	SACS, ARDNAJC29, PPP1R138, SPAX6, sacsin molecular chaperone
External IDs	OMIM: 604490; MGI: 1354724; GeneCards: SACS
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1IUR, 3O10
Gene location (Human) Chr. Chromosome 13 (human) Band 13q12.12 Start 23,288,689 bp End 23,433,763 bp
Gene location (Mouse) Chr. Chromosome 14 (mouse) Band 14 D1|14 32.13 cM Start 61,375,906 bp End 61,478,144 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in Brodmann area 23 middle frontal gyrus frontal pole Brodmann area 10 thoracic diaphragm Skeletal muscle tissue of rectus abdominis lateral nuclear group of thalamus middle temporal gyrus biceps brachii Skeletal muscle tissue of biceps brachii Top expressed in pontine nuclei deep cerebellar nuclei medial geniculate nucleus medial dorsal nucleus medial vestibular nucleus lateral geniculate nucleus inferior colliculi dorsal striatum substantia nigra primary motor cortex More reference expression data BioGPS More reference expression data
Gene ontology Molecular function Hsp70 protein binding proteasome binding chaperone binding Cellular component cytoplasm axon dendrite mitochondrion nucleus cell body fiber Biological process protein folding negative regulation of inclusion body assembly Sources:Amigo / QuickGO
Orthologs Databases NCBI: entry; OMA: entry Species Human Mouse Entrez 26278 50720 Ensembl ENSG00000151835 ENSMUSG00000048279 UniProt Q9NZJ4 Q9JLC8 RefSeq (mRNA) NM_001278055 NM_014363 NM_152752 NM_015788 NM_172809 RefSeq (protein) NP_001264984 NP_055178 NP_766397 NP_056603 Location (UCSC) Chr 13: 23.29 – 23.43 Mb Chr 14: 61.38 – 61.48 Mb PubMed search
Wikidata
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Sacsin also known as DnaJ homolog subfamily C member 29 (DNAJC29) is a protein that in humans is encoded by the SACS gene. Sacsin is a Hsp70 co-chaperone.

Function

This gene consists of nine exons including a gigantic exon spanning more than 12.8k bp. It encodes the sacsin protein, which includes a UBQ region at the N-terminus, a HEPN domain at the C-terminus and a DnaJ region upstream of the HEPN domain. This modular protein is essential for normal mitochondrial network organization. The gene is highly expressed in the central nervous system, also found in skin, skeletal muscles and at low levels in the pancreas. Mutations in this gene result in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), a neurodegenerative disorder characterized by early-onset cerebellar ataxia with spasticity and peripheral neuropathy.

Clinical significance

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a very rare neurodegenerative genetic disorder that results from mutations in the gene that produces Sacsin. Afflicted persons suffer from loss of balance, loss of muscle control and spasticity.

References

Further reading

External links

• GeneReviews/NCBI/NIH/UW entry on ARSACS - Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay
• OMIM entries on ARSACS - Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

This article on a gene on human chromosome 13 is a stub. You can help Wikipedia by adding missing information.

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