Skip to content
Use your HSA or FSA funds
Sequence your genome (opens in a new tab)

Gene

SLC1A4

solute carrier family 1 member 4

Summary

Cytogenetic location
2p14
Coordinates
Chromosome 2: 64,989,399–65,023,865 (GRCh38)
Exons
8 exons across 34.5 kb
Protein
532 amino acids
Inheritance
Autosomal recessive
Also known as
SATT, ASCT1, ASCT-1
MANE Select transcript
ENST00000234256.4NM_003038.5
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Curated report relevant to this gene

  • Disorders of Glycine & Serine Metabolism

    • Serine Deficiency DisordersAutosomal recessive

      Caused by variants in PHGDH, PSAT1 or PSPH, which block serine production and can cause small head size, seizures and developmental delay.

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

      Knowing allows serine and glycine supplementation, which can prevent or improve symptoms when started early, including before birth.

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 SLC1A4 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 2, with a bracket where SLC1A4 sits. SLC1A4 and 6 genes near it on chromosome 2, from 64,506,632 to 65,506,631.Chromosome 22p14p25.3p25.2p25.1p24.3p24.2p24.1p23.3p23.2p23.1p22.3p22.2p22.1p21p16.3p16.2p16.1p15p14p13.3p13.2p13.1p12p11.2p11.1q11.1q11.2q12.1q12.2q12.3q13q14.1q14.2q14.3q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.3q31.1q31.2q31.3q32.1q32.2q32.3q33.1q33.2q33.3q34q35q36.1q36.2q36.3q37.1q37.2q37.364.6 Mb64.8 Mb65 Mb65.2 Mb65.4 MbAFTPH: 64,524,286–64,593,009, forward strandAFTPHSERTAD2: 64,631,621–64,751,005, reverse strandSERTAD2SLC1A4: 64,989,399–65,023,865, forward strandSLC1A4CEP68: 65,056,350–65,087,298, forward strandCEP68RAB1A: 65,070,696–65,130,986, reverse strandRAB1AACTR2: 65,227,714–65,271,253, forward strandACTR2SPRED2: 65,310,851–65,432,682, reverse strandSPRED2Diagram of SLC1A4: 8 exons on the forward strand of chromosome 2Exon 1: 1 known disease-causing siteExon 4: 1 known disease-causing siteExon 5: 4 known disease-causing sitesExon 6: 1 known disease-causing siteExon 8: 3 known disease-causing sitesExon 1: 64,989,399–64,990,170, 772 basesExon 2: 65,001,448–65,001,490, 43 basesExon 3: 65,003,953–65,004,015, 63 basesExon 4: 65,010,597–65,010,763, 167 basesExon 5: 65,016,440–65,016,673, 234 basesExon 6: 65,018,071–65,018,265, 195 basesExon 7: 65,018,545–65,018,679, 135 basesExon 8: 65,020,912–65,023,865, 2,954 bases124685′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 4.6 kb of the gene's 34.5 kb; 1,599 of those bases code for the protein.

How a genome test reads SLC1A4

14

positions in SLC1A4 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 34.5 kb of SLC1A4, introns included, not only the 4.6 kb of exons.

Genes linked to the same conditions

Traits linked to SLC1A4

The Human Phenotype Ontology lists these as features of the rare conditions SLC1A4 can cause. Each trait's page lists the other genes linked to it.

External links

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.). SLC1A4 gene: solute carrier family 1 member 4. Retrieved 17 October 2026, from https://dantelabs.com/genes/slc1a4

Vancouver

Dante Labs. SLC1A4 gene: solute carrier family 1 member 4 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/slc1a4

One test. A lifetime of answers.

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

Get my Genome Test