Gene
AASS
aminoadipate-semialdehyde synthase
- HGNC 17366(opens in a new tab)
- Ensembl gene ENSG00000008311(opens in a new tab)
- NCBI Gene 10157(opens in a new tab)
Summary
- Cytogenetic location
- 7q31.32
- Coordinates
- Chromosome 7: 122,073,549–122,144,249 (GRCh38)
- Exons
- 24 exons across 70.7 kb
- Protein
- 926 amino acids
- Also known as
- LORSDH, LKRSDH, LKR/SDH
- MANE Select transcript
- ENST00000417368.7NM_005763.4
- 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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How AASS 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 5.8 kb of the gene's 70.7 kb; 2,781 of those bases code for the protein.
How a genome test reads AASS
11
positions in AASS 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 70.7 kb of AASS, introns included, not only the 5.8 kb of exons.
Traits linked to AASS
The Human Phenotype Ontology lists these as features of the rare conditions AASS can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- More active than typical
- Behavioral abnormality
- Clumsiness
- Delayed speech and language development
- Difficulty performing quick and alternating movements
- EEG with spike-wave complexes
- Epilepsy
- Febrile seizure (within the age range of 3 months to 6 years)
Show 18 more traits
- Global developmental delay
- Intellectual disability
- Intellectual disability, mild
- Neurodevelopmental delay
- Short attention span
- Abnormality of movement
- Brisk reflexes
- Cognitive impairment
- Decreased sensation in extremities
- Inability to coordinate movements when walking
- Incoordination
- Intellectual disability, borderline
- Lack of coordination of movement
- Mental deterioration
- Mild global developmental delay
- Simple febrile seizure
- Toe walking
- Tremor
Laboratory abnormality
- Decreased blood ornithine concentrations
- Decreased CSF arginine concentration
- Elevated blood lysine
- High urine arginine levels
- High urine lysine levels
- Homocitrullinuria
- Increased CSF lysine concentration
- Ornithinuria
Show 10 more traits
- Abnormal circulating enzyme concentration
- Abnormal circulating enzyme concentration or activity
- Abnormal CSF ornithine concentration
- Decreased urine alpha-ketoglutarate concentration
- High blood ammonia levels
- High urine cystine levels
- Citrullinuria
- Elevated circulating citrulline concentration
- High blood cystine levels
- Elevated CSF saccharopine concentration
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.
- 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.). AASS gene: aminoadipate-semialdehyde synthase. Retrieved 16 October 2026, from https://dantelabs.com/genes/aass
Dante Labs. AASS gene: aminoadipate-semialdehyde synthase [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/aass
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