Gene
SLC7A7
solute carrier family 7 member 7
- HGNC 11065↗(opens in a new tab)
- Ensembl gene ENSG00000155465↗(opens in a new tab)
- NCBI Gene 9056↗(opens in a new tab)
Summary
- Cytogenetic location
- 14q11.2
- Coordinates
- Chromosome 14: 22,773,222–22,815,435 (GRCh38)
- Exons
- 10 exons across 42.2 kb
- Protein
- 511 amino acids
- Inheritance
- Autosomal recessive
- Also known as
- y+LAT-1, Y+LAT1
- Previous symbols
- LPI
- MANE Select transcript
- ENST00000674313.1NM_003982.4
- 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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Urea Cycle Disorder
- Lysinuric Protein IntoleranceAutosomal recessive
Caused by variants in SLC7A7, which impair transport of lysine, arginine and ornithine and can cause high ammonia after protein-rich meals, poor growth, lung and kidney complications.
- ClinGen rates the link definitive
- 5 GenCC submitters rate it definitive or strong
What knowing changes
Knowing allows protein restriction and citrulline supplementation, managed like a urea cycle disorder, with monitoring of lungs and kidneys.
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 SLC7A7 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 2.1 kb of the gene's 42.2 kb; 1,536 of those bases code for the protein.
How a genome test reads SLC7A7
130
positions in SLC7A7 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 42.2 kb of SLC7A7, introns included, not only the 2.1 kb of exons.
Traits linked to SLC7A7
The Human Phenotype Ontology lists these as features of the rare conditions SLC7A7 can cause. Each trait's page lists the other genes linked to it.
Laboratory abnormality
- Decreased blood lysine
- High urine lysine levels
- Abnormal circulating serine concentration
- Blood in urine
- Decreased circulating high-density lipoprotein cholesterol
- Elevated blood glycine levels
- Elevated circulating citrulline concentration
- Elevated serum cholesterol
Show 19 more traits
- High blood ammonia levels
- High liver enzymes
- High plasma glutamine
- High urine arginine levels
- High urine protein levels
- Hyperprolinemia
- Increased blood alanine
- Increased circulating lactate dehydrogenase concentration
- Increased circulating LDL level
- Increased plasma triglycerides
- Accumulation of acid in body due to kidney problem
- Elevated serum ferritin
- Hepatic amyloidosis
- High urine orotic acid levels
- Increased serum zinc
- Ornithinuria
- Renal amyloidosis
- Abnormal urinary amino-acid findings
- Higher than normal levels of lactate in blood
Abnormality of the digestive system
- Enlarged liver
- Protein avoidance
- Diarrhea
- Fat in feces
- Feeding difficulties
- Liver failure
- Scar tissue replaces healthy tissue in the liver
- Vomiting
Show 3 more traits
Abnormality of the genitourinary system
- Abnormal function of filtrating structures in kidney
- Abnormal renal tubule morphology
- Chronic kidney disease
- Decreased glomerular filtration rate
- Glomerulonephritis
- Increased calcium level in kidney
- Membranous nephropathy
- Renal fibrosis
Show 2 more traits
Abnormality of blood and blood-forming tissues
- Bleeding tendency
- Bone marrow hypercellularity
- Decreased blood leukocyte number
- Hemophagocytosis
- Low number of red blood cells or hemoglobin
- Low platelet count
- Hypofibrinogenemia
- Megakaryocytopenia
Show 1 more trait
Abnormality of the musculoskeletal system
- Osteoporosis
- Decreased muscle tone in infant
- Delayed bone maturation
- Low muscle tone
- Osteopenia
- Spontaneous fracture
- Muscle degeneration
- Muscle weakness
Show 1 more trait
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.). SLC7A7 gene: solute carrier family 7 member 7. Retrieved 16 October 2026, from https://dantelabs.com/genes/slc7a7
Dante Labs. SLC7A7 gene: solute carrier family 7 member 7 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/slc7a7
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