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Gene

SGSH

N-sulfoglucosamine sulfohydrolase

Summary

Cytogenetic location
17q25.3
Coordinates
Chromosome 17: 80,209,276–80,220,333 (GRCh38)
Exons
8 exons across 11.1 kb
Protein
502 amino acids
Inheritance
Autosomal recessive
Also known as
HSS, MPS3A, SFMD
MANE Select transcript
ENST00000326317.11NM_000199.5
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

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

Curated reports relevant to this gene

  • Mucopolysaccharidosis Type III (Sanfilippo Syndrome)

    • Mucopolysaccharidosis type III (Sanfilippo syndrome types A, B, C and D)Autosomal recessive

      Deficiency of one of four enzymes that break down heparan sulfate (SGSH in type A, NAGLU in type B, HGSNAT in type C, GNS in type D) causes speech delay, hyperactivity, sleep problems and progressive loss of skills in childhood.

      • ClinGen rates the link definitive
      • 8 GenCC submitters rate it definitive or strong
      What knowing changes

      There is no approved disease-modifying therapy yet; a genetic diagnosis guides supportive care, family testing and eligibility for clinical trials.

Broader groupings

  • Lysosomal Storage Disease

    • Lysosomal storage disease (other and unspecified types)

      One of 59 genes linked to it

      Covers lysosomal storage diseases without a dedicated report, such as Farber disease and other ASAH1-related disorders, prosaposin (PSAP) deficiencies, multiple sulfatase deficiency, mucopolysaccharidosis types IX and X, and Dorfman-Chanarin disease; inheritance varies by subtype, most often autosomal recessive.

      • ClinGen rates the link definitive
      • 8 GenCC submitters rate it definitive or strong

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 SGSH is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 17, with a bracket where SGSH sits. SGSH and 15 genes near it on chromosome 17, from 79,714,805 to 80,714,804.Chromosome 1717q25.3p13.3p13.2p13.1p12p11.2p11.1q11.1q11.2q12q21.1q21.2q21.31q21.32q21.33q22q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.379.8 Mb80 Mb80.2 Mb80.4 Mb80.6 MbENPP7: 79,728,809–79,742,930, forward strandENPP7CBX2: 79,778,135–79,788,394, forward strandCBX2CBX8: 79,792,132–79,801,683, reverse strandCBX8CBX4: 79,833,156–79,839,486, reverse strandCBX4TBC1D16: 79,932,343–80,035,887, reverse strandTBC1D16CCDC40: 80,036,000–80,100,613, forward strandCCDC40GAA: 80,101,526–80,119,881, forward strandGAAEIF4A3: 80,132,700–80,147,151, reverse strandEIF4A3CARD14: 80,169,992–80,216,073, forward strandCARD14SGSH: 80,209,276–80,220,333, reverse strandSGSHSLC26A11: 80,219,699–80,253,509, forward strandSLC26A11RNF213: 80,260,807–80,398,794, forward strandRNF213ENDOV: 80,415,147–80,438,086, forward strandENDOVNPTX1: 80,466,834–80,477,843, reverse strandNPTX1RPTOR: 80,544,819–80,966,371, forward strandRPTOR: 80,545,075–80,545,134, forward strandDiagram of SGSH: 8 exons on the reverse strand of chromosome 17Exon 8: 75 known disease-causing sitesExon 7: 17 known disease-causing sitesExon 6: 12 known disease-causing sitesExon 5: 20 known disease-causing sitesExon 4: 20 known disease-causing sitesExon 3: 13 known disease-causing sitesExon 2: 15 known disease-causing sitesExon 1: 7 known disease-causing sitesExon 8: 80,209,276–80,211,011, 1,736 basesExon 7: 80,212,071–80,212,274, 204 basesExon 6: 80,213,804–80,213,885, 82 basesExon 5: 80,214,172–80,214,328, 157 basesExon 4: 80,214,615–80,214,765, 151 basesExon 3: 80,215,033–80,215,138, 106 basesExon 2: 80,217,032–80,217,192, 161 basesExon 1: 80,220,226–80,220,333, 108 bases876543215′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 2.7 kb of the gene's 11.1 kb; 1,509 of those bases code for the protein.

How a genome test reads SGSH

194

positions in SGSH 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 11.1 kb of SGSH, introns included, not only the 2.7 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.). SGSH gene: N-sulfoglucosamine sulfohydrolase. Retrieved 17 October 2026, from https://dantelabs.com/genes/sgsh

Vancouver

Dante Labs. SGSH gene: N-sulfoglucosamine sulfohydrolase [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/sgsh

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