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Gene

SACS

sacsin molecular chaperone

Summary

Cytogenetic location
13q12.12
Coordinates
Chromosome 13: 23,328,830–23,433,702 (GRCh38)
Exons
10 exons across 104.9 kb
Protein
4,579 amino acids
Inheritance
Autosomal recessive
Also known as
ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138
MANE Select transcript
ENST00000382292.9NM_014363.6
Locus type
gene with protein product

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated report relevant to this gene

    • Autosomal Recessive Cerebellar Ataxias (incl. CANVAS and AVED)

      • Autosomal Recessive Cerebellar AtaxiaAutosomal recessive

        One of 57 genes linked to it

        A group of recessively inherited ataxias caused by biallelic variants in genes such as RFC1, FXN, SACS, TTPA, SETX, APTX, PNKP, ANO10 and SYNE1.

        • 6 GenCC submitters rate it definitive or strong
        What knowing changes

        Ataxia with vitamin E deficiency (TTPA) is treatable with vitamin E supplements; other forms are managed with physiotherapy and symptom care, and relatives can be offered carrier testing.

    Inheritance

    Autosomal recessive
    It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.

    How SACS is laid out

    • Coding sequence
    • Untranslated region
    • Intron
    • Direction of transcription
    • Known disease-causing sites
    • Stretches short reads find hard
    Chromosome 13, with a bracket where SACS sits. SACS and 3 genes near it on chromosome 13, from 22,881,266 to 23,881,265.Chromosome 1313q12.12p13p12p11.2p11.1q11q12.11q12.12q12.13q12.2q12.3q13.1q13.2q13.3q14.11q14.12q14.13q14.2q14.3q21.1q21.2q21.31q21.32q21.33q22.1q22.2q22.3q31.1q31.2q31.3q32.1q32.2q32.3q33.1q33.2q33.3q3423 Mb23.2 Mb23.4 Mb23.6 Mb23.8 MbSGCG: 23,160,011–23,325,958, forward strandSGCGSACS: 23,328,830–23,433,702, reverse strandSACSTNFRSF19: 23,570,194–23,676,105, forward strandTNFRSF19MIPEP: 23,730,000–23,889,448, reverse strandMIPEPDiagram of SACS: 10 exons on the reverse strand of chromosome 13Exon 10: 496 known disease-causing sitesExon 9: 3 known disease-causing sitesExon 8: 87 known disease-causing sitesExon 7: 18 known disease-causing sitesExon 6: 12 known disease-causing sitesExon 5: 3 known disease-causing sitesExon 4: 5 known disease-causing sitesExon 3: 18 known disease-causing sitesExon 2: 1 known disease-causing siteExon 10: 23,328,830–23,341,690, 12,861 basesExon 9: 23,353,785–23,353,876, 92 basesExon 8: 23,354,519–23,356,007, 1,489 basesExon 7: 23,358,335–23,358,481, 147 basesExon 6: 23,365,166–23,365,277, 112 basesExon 5: 23,368,402–23,368,487, 86 basesExon 4: 23,371,078–23,371,165, 88 basesExon 3: 23,375,119–23,375,269, 151 basesExon 2: 23,411,220–23,411,740, 521 basesExon 1: 23,433,615–23,433,702, 88 bases10864215′3′

    Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

    Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

    Nearby genes from Ensembl release 116, on GRCh38.

    Exons make up 15.6 kb of the gene's 104.9 kb; 13,740 of those bases code for the protein.

    How a genome test reads SACS

    658

    positions in SACS where ClinVar classes a change as pathogenic or likely pathogenic

    None of them falls in a region short reads find hard.

    A whole genome covers all 104.9 kb of SACS, introns included, not only the 15.6 kb of exons.

    Where this comes from

    • HGNC: the gene's symbol, name, other symbols and location.
    • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
    • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
    • The ACMG secondary findings list, SF v3.2.
    • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
    • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
    • Data release 2026.10.16-c6eea6bf.

    Cite this page

    APA

    Dante Labs. (n.d.). SACS gene: sacsin molecular chaperone. Retrieved 17 October 2026, from https://dantelabs.com/genes/sacs

    Vancouver

    Dante Labs. SACS gene: sacsin molecular chaperone [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/sacs

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