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Gene

SLC17A5

solute carrier family 17 member 5

Summary

Cytogenetic location
6q13
Coordinates
Chromosome 6: 73,593,379–73,653,992 (GRCh38)
Exons
11 exons across 60.6 kb
Protein
495 amino acids
Inheritance
Autosomal recessive
Also known as
AST, SD, ISSD, NSD, SIALIN, SLD
Previous symbols
SIASD
MANE Select transcript
ENST00000355773.6NM_012434.5
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

  • Salla Disease and Free Sialic Acid Storage Disease

    • Salla diseaseAutosomal recessive

      Low muscle tone, developmental delay, ataxia and intellectual disability beginning in infancy and progressing slowly; more common in Finland.

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

      Care is supportive, including therapy and developmental support.

    • Infantile free sialic acid storage diseaseAutosomal recessive

      Severe disease from birth or before, with fetal hydrops, coarse features, organ enlargement and early death.

      • 3 GenCC submitters rate it definitive or strong

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
      • 7 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 SLC17A5 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 6, with a bracket where SLC17A5 sits. SLC17A5 and 12 genes near it on chromosome 6, from 73,123,686 to 74,123,685.Chromosome 66q13p25.3p25.2p25.1p24.3p24.2p24.1p23p22.3p22.2p22.1p21.33p21.32p21.31p21.2p21.1p12.3p12.2p12.1p11.2p11.1q11.1q11.2q12q13q14.1q14.2q14.3q15q16.1q16.2q16.3q21q22.1q22.2q22.31q22.32q22.33q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.3q26q2773.2 Mb73.4 Mb73.6 Mb73.8 Mb74 MbKCNQ5: 72,621,623–73,198,853, forward strandKCNQ5: 73,209,746–73,263,196, reverse strandKHDC1L: 73,223,544–73,225,770, reverse strandKHDC1LKHDC1: 73,241,310–73,310,455, reverse strandKHDC1DPPA5: 73,353,063–73,354,294, reverse strandDPPA5KHDC3L: 73,362,653–73,364,173, forward strandKHDC3LOOEP: 73,368,549–73,395,133, reverse strandOOEPDDX43: 73,394,774–73,417,578, forward strandDDX43CGAS: 73,413,515–73,461,726, reverse strandCGASMTO1: 73,461,578–73,509,236, forward strandMTO1EEF1A1: 73,489,308–73,525,587, reverse strandEEF1A1SLC17A5: 73,593,379–73,653,992, reverse strandSLC17A5CD109: 73,695,779–73,828,316, forward strandCD109Diagram of SLC17A5: 11 exons on the reverse strand of chromosome 6Exon 11: 1 known disease-causing siteExon 10: 2 known disease-causing sitesExon 9: 6 known disease-causing sitesExon 8: 15 known disease-causing sitesExon 7: 17 known disease-causing sitesExon 6: 13 known disease-causing sitesExon 5: 12 known disease-causing sitesExon 4: 14 known disease-causing sitesExon 3: 22 known disease-causing sitesExon 2: 15 known disease-causing sitesExon 1: 9 known disease-causing sitesExon 11: 73,593,379–73,595,214, 1,836 basesExon 10: 73,600,351–73,600,441, 91 basesExon 9: 73,610,400–73,610,547, 148 basesExon 8: 73,615,315–73,615,447, 133 basesExon 7: 73,621,804–73,621,962, 159 basesExon 6: 73,635,382–73,635,500, 119 basesExon 5: 73,636,621–73,636,707, 87 basesExon 4: 73,638,412–73,638,499, 88 basesExon 3: 73,641,691–73,641,924, 234 basesExon 2: 73,644,407–73,644,603, 197 basesExon 1: 73,653,793–73,653,992, 200 bases11109876543215′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 3.3 kb of the gene's 60.6 kb; 1,488 of those bases code for the protein.

How a genome test reads SLC17A5

145

positions in SLC17A5 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 60.6 kb of SLC17A5, introns included, not only the 3.3 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.). SLC17A5 gene: solute carrier family 17 member 5. Retrieved 17 October 2026, from https://dantelabs.com/genes/slc17a5

Vancouver

Dante Labs. SLC17A5 gene: solute carrier family 17 member 5 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/slc17a5

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