Sacsin

Alternative Names

  • SACS
Back to search Result
OMIM Number

604490

NCBI Gene ID

26278

Uniprot ID

Q9NZJ4

Length

104,915 bases

No. of Exons

13

No. of isoforms

2

Protein Name

Sacsin

Molecular Mass

521126 Da

Amino Acid Count

4579

Genomic Location

chr13:23,328,826-23,433,740

Gene Map Locus
13q12.12

Description

This gene encodes the sacsin protein, which includes a UbL domain at the N-terminus, a DnaJ domain, and a HEPN domain at the C-terminus. The gene is highly expressed in the central nervous system, also found in skin, skeletal muscles and at low levels in the pancreas. This gene includes a very large exon spanning more than 12.8 kb. 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. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_014363.6:c.2143C>AUnited Arab EmiratesNC_000013.11:g.23353827G>TNG_012342.1:g.84876C>A; NM_014363.6:c.2143C>A; NP_055178.3:p.Pro715Thr
NM_014363.6:c.3391C>TLebanonchr13:23340485Likely Pathogenic, Uncertain SignificanceLikely PathogenicSpastic Ataxia, Charlevoix-Saguenay TypeNG_012342.1:g.98218C>T; NM_014363.6:c.3391C>T; NP_055178.3:p.Leu1131Phe139805032240899
NM_014363.6:c.5732C>AUnited Arab EmiratesNC_000013.11:g.23338144G>TNG_012342.1:g.100559C>A; NM_014363.6:c.5732C>A; NP_055178.3:p.Thr1911Lys
© CAGS 2023. All rights reserved.