Gene
AGA
aspartylglucosaminidase
- HGNC 318(opens in a new tab)
- Ensembl gene ENSG00000038002(opens in a new tab)
- NCBI Gene 175(opens in a new tab)
Summary
- Cytogenetic location
- 4q34.3
- Coordinates
- Chromosome 4: 177,430,774–177,442,437 (GRCh38)
- Exons
- 9 exons across 11.7 kb
- Protein
- 346 amino acids
- Inheritance
- Autosomal recessive
- Also known as
- ASRG
- MANE Select transcript
- ENST00000264595.7NM_000027.4
- 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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Alpha-Mannosidosis and Other Glycoproteinoses
- AspartylglucosaminuriaAutosomal recessive
Slowly progressive intellectual disability, behavioural changes and mild coarse features beginning in childhood, caused by AGA variants; more common in Finland.
- ClinGen rates the link definitive
- 7 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 AGA 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 kb of the gene's 11.7 kb; 1,041 of those bases code for the protein.
How a genome test reads AGA
90
positions in AGA 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 11.7 kb of AGA, introns included, not only the 2 kb of exons.
Traits linked to AGA
The Human Phenotype Ontology lists these as features of the rare conditions AGA can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Abnormal speech pattern
- Delayed speech and language development
- Disorder of involuntary muscle movements
- Intellectual disability
- Behavioral abnormality
- Difficulty sleeping
- Epilepsy
- Degeneration of cerebrum
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.). AGA gene: aspartylglucosaminidase. Retrieved 16 October 2026, from https://dantelabs.com/genes/aga
Dante Labs. AGA gene: aspartylglucosaminidase [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/aga
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