Gene
SLC25A13
solute carrier family 25 member 13
- HGNC 10983(opens in a new tab)
- Ensembl gene ENSG00000004864(opens in a new tab)
- NCBI Gene 10165(opens in a new tab)
Summary
- Cytogenetic location
- 7q21.3
- Coordinates
- Chromosome 7: 96,120,220–96,322,098 (GRCh38)
- Exons
- 18 exons across 201.9 kb
- Protein
- 675 amino acids
- Inheritance
- Autosomal recessive
- Also known as
- CITRIN, ARALAR2
- Previous symbols
- CTLN2
- MANE Select transcript
- ENST00000265631.10NM_014251.3
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Citrullinemia
- Autosomal recessive
Citrullinemia is an autosomal recessively inherited disorder of urea cycle metabolism and ammonia detoxification characterized by elevated concentrations of serum citrulline and ammonia. The disease presents with a large range of manifestations including neonatal hyperammonemic encephalopathy with lethargy, seizures and coma; hepatic dysfunction in all age groups; episodes of hyperammonemia and neuropsychiatric symptoms in children or adults, or, can be asymptomatic in some cases (detected in newborn screening programs). Citrullinemia is divided into two main groups that are encoded by different genes: citrullinemia type I (comprised of acute neonatal citrullinemia type I and adult-onset citrullinemia type I) and citrin deficiency (comprised of adult-onset citrullinemia type II and neonatal intrahepatic cholestasis due to citrin deficiency).
- ClinGen rates the link definitive
- 5 GenCC submitters rate it definitive or strong
Urea Cycle Disorder
A genetic inborn error of metabolism characterized by the deficiency of one of the enzymes necessary for the urea cycle. It results in accumulation of ammonia in the body.
- ClinGen rates the link definitive
- 5 GenCC submitters rate it definitive or strong
What knowing changes
Nitrogen scavenger therapy (sodium benzoate, glycerol phenylbutyrate/Ravicti); protein-restricted diet with essential amino acid supplementation; emergency hyperammonemia protocols; liver transplantation (curative); mRNA therapy trials for OTC; carglumic acid for NAGS deficiency
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 SLC25A13 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
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 3.1 kb of the gene's 201.9 kb; 2,028 of those bases code for the protein.
How a genome test reads SLC25A13
195
positions in SLC25A13 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 201.9 kb of SLC25A13, introns included, not only the 3.1 kb of exons.
Traits linked to SLC25A13
The Human Phenotype Ontology lists these as features of the rare conditions SLC25A13 can cause. Each trait's page lists the other genes linked to it.
Laboratory abnormality
- Conjugated hyperbilirubinemia
- Elevated alkaline phosphatase
- Elevated blood lysine
- Elevated circulating alanine aminotransferase concentration
- Elevated circulating aspartate aminotransferase concentration
- Elevated circulating citrulline concentration
- Elevated gamma-glutamyltransferase level
- High blood arginine levels
Show 31 more traits
- High blood bilirubin levels
- High blood threonine levels
- Increased methionine in blood
- Increased serum bile acid concentration
- Increased tyrosine in blood
- Macrovesicular hepatic steatosis
- Microvesicular hepatic steatosis
- Abnormal circulating lipid concentration
- Acute hyperammonemia
- Elevated circulating alpha-fetoprotein concentration
- Fatty infiltration of liver
- Hypergalactosemia
- Increased circulating lactate dehydrogenase concentration
- Increased lactate in body
- Increased plasma triglycerides
- Low albumin
- Abnormal circulating alanine concentration
- Abnormal circulating arginine concentration
- Abnormal circulating glutamine concentration
- Decreased protein levels in blood
- Elevated lipids in blood
- High blood ammonia levels
- High liver enzymes
- Abnormal circulating serine concentration
- Brain swelling
- Decreased circulating high-density lipoprotein cholesterol
- Elevated serum cholesterol
- Increased circulating LDL level
- Increased urinary glycerol
- Ketonuria
- Argininosuccinic aciduria
Abnormality of the nervous system
- Abnormal eating behavior
- Aggressive behavior
- Asterixis
- Confusion
- Delirium
- Delusions
- Difficulty sleeping
- Drowsiness
Show 18 more traits
External links
Gene records
Transcript
Protein
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
Dante Labs. (n.d.). SLC25A13 gene: solute carrier family 25 member 13. Retrieved 16 October 2026, from https://dantelabs.com/genes/slc25a13
Dante Labs. SLC25A13 gene: solute carrier family 25 member 13 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/slc25a13
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