Skip to content
Use your HSA or FSA funds

Gene

GALNS

galactosamine (N-acetyl)-6-sulfatase

Summary

Cytogenetic location
16q24.3
Coordinates
Chromosome 16: 88,813,734–88,856,947 (GRCh38)
Exons
14 exons across 43.2 kb
Protein
522 amino acids
Inheritance
Autosomal recessive
Also known as
GAS, GALNAC6S, GalN6S
MANE Select transcript
ENST00000268695.10NM_000512.5
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 IVA (Morquio A Syndrome)

    • Autosomal recessive

      Deficiency of N-acetylgalactosamine-6-sulfatase causes short stature, spinal and chest deformity, joint laxity, neck instability, corneal clouding and heart valve disease.

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

      Enzyme replacement therapy (elosulfase alfa) is available, and neck instability needs monitoring, especially before anaesthesia.

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
      • 5 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 GALNS is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 16, with a bracket where GALNS sits. GALNS and 21 genes near it on chromosome 16, from 88,335,341 to 89,335,340.Chromosome 1616q24.3p13.3p13.2p13.13p13.12p13.11p12.3p12.2p12.1p11.2p11.1q11.1q11.2q12.1q12.2q13q21q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.388.4 Mb88.6 Mb88.8 Mb89 Mb89.2 MbZNF469: 88,382,959–88,440,757, forward strandZNF469ZFPM1: 88,453,208–88,537,031, forward strandZFPM1ZC3H18: 88,570,388–88,631,966, forward strandZC3H18IL17C: 88,638,571–88,640,468, forward strandIL17CCYBA: 88,643,275–88,651,083, reverse strandCYBAMVD: 88,651,934–88,663,166, reverse strandMVDSNAI3: 88,674,992–88,686,513, reverse strandSNAI3RNF166: 88,696,494–88,706,424, reverse strandRNF166CTU2: 88,706,470–88,717,853, forward strandCTU2PIEZO1: 88,715,338–88,785,251, reverse strandPIEZO1CDT1: 88,803,777–88,809,258, forward strandCDT1APRT: 88,808,323–88,811,970, reverse strandAPRTGALNS: 88,813,734–88,856,947, reverse strandGALNSTRAPPC2L: 88,856,220–88,862,686, forward strandTRAPPC2LPABPN1L: 88,863,333–88,866,660, reverse strandPABPN1LCBFA2T3: 88,874,858–88,977,207, reverse strandCBFA2T3ACSF3: 89,088,375–89,164,121, forward strandACSF3CDH15: 89,171,742–89,195,492, forward strandCDH15SLC22A31: 89,195,458–89,201,692, reverse strandSLC22A31ZNF778: 89,217,683–89,237,141, forward strandZNF778ANKRD11: 89,267,619–89,490,706, reverse strandANKRD11: 89,317,046–89,418,292, reverse strandDiagram of GALNS: 14 exons on the reverse strand of chromosome 16Exon 14: 10 known disease-causing sitesExon 13: 14 known disease-causing sitesExon 12: 17 known disease-causing sitesExon 11: 22 known disease-causing sitesExon 10: 11 known disease-causing sitesExon 9: 18 known disease-causing sitesExon 8: 21 known disease-causing sitesExon 7: 28 known disease-causing sitesExon 6: 9 known disease-causing sitesExon 5: 32 known disease-causing sitesExon 4: 17 known disease-causing sitesExon 3: 15 known disease-causing sitesExon 2: 20 known disease-causing sitesExon 1: 15 known disease-causing sitesExon 14: 88,813,734–88,814,525, 792 basesExon 13: 88,818,007–88,818,124, 118 basesExon 12: 88,822,589–88,822,710, 122 basesExon 11: 88,824,767–88,824,869, 103 basesExon 10: 88,826,702–88,826,838, 137 basesExon 9: 88,831,998–88,832,101, 104 basesExon 8: 88,835,213–88,835,352, 140 basesExon 7: 88,835,725–88,835,849, 125 basesExon 6: 88,836,201–88,836,267, 67 basesExon 5: 88,837,622–88,837,765, 144 basesExon 4: 88,840,992–88,841,094, 103 basesExon 3: 88,841,897–88,841,971, 75 basesExon 2: 88,842,706–88,842,829, 124 basesExon 1: 88,856,758–88,856,947, 190 bases141210864215′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 2.3 kb of the gene's 43.2 kb; 1,569 of those bases code for the protein.

How a genome test reads GALNS

297

positions in GALNS 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 43.2 kb of GALNS, introns included, not only the 2.3 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.). GALNS gene: galactosamine (N-acetyl)-6-sulfatase. Retrieved 17 October 2026, from https://dantelabs.com/genes/galns

Vancouver

Dante Labs. GALNS gene: galactosamine (N-acetyl)-6-sulfatase [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/galns

One test. A lifetime of answers.

From $449Free shipping · Results in 6–8 weeks

Get my Genome Test