Gene
CSGALNACT1
chondroitin sulfate N-acetylgalactosaminyltransferase 1
- HGNC 24290↗(opens in a new tab)
- Ensembl gene ENSG00000147408↗(opens in a new tab)
- NCBI Gene 55790↗(opens in a new tab)
Summary
- Cytogenetic location
- 8p21.3
- Coordinates
- Chromosome 8: 19,404,161–19,757,277 (GRCh38)
- Exons
- 9 exons across 353.1 kb
- Protein
- 532 amino acids
- Also known as
- CSGalNAcT-1, FLJ11264, ChGn
- MANE Select transcript
- ENST00000692225.2NM_001354483.2
- 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.
Read CSGALNACT1, and the rest of your genome, with one test.
From $449Free shipping · Results in 6–8 weeks
Get my Genome TestCurated reports relevant to this gene
No Genome Test report reads CSGALNACT1 yet. The test sequences your whole genome, so your data includes it all the same.
How CSGALNACT1 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 3.7 kb of the gene's 353.1 kb; 1,599 of those bases code for the protein.
How a genome test reads CSGALNACT1
7
positions in CSGALNACT1 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 353.1 kb of CSGALNACT1, introns included, not only the 3.7 kb of exons.
Traits linked to CSGALNACT1
The Human Phenotype Ontology lists these as features of the rare conditions CSGALNACT1 can cause. Each trait's page lists the other genes linked to it.
Abnormality of limbs
- Flat acetabular roof
- Increased mobility in finger joint
- Knock knees
- Monkey wrench femoral neck
- Single transverse palmar crease
- Smaller or shorter than typical limbs
- Webbed 2nd and 3rd toes
- Winged shoulder blade
Show 16 more traits
- Abnormal neck or head of thigh bone
- Abnormality of the wide portion of a long bone
- Dislocated kneecap
- Permanent flexion of the finger
- Back knee
- Coxa valga
- Coxa vara
- Curvature of index finger
- Curvature of little finger
- Dropped arches
- Elbow dislocation
- Fused forearm bones
- Limited elbow extension
- Limited knee straightening
- Short fingers or toes
- Small hand
Abnormality of the musculoskeletal system
- Advanced bone age
- Coronal cleft vertebrae
- Low muscle tone
- Scoliosis
- Bell-shaped thorax
- Double-Jointed
- Butterfly vertebrae
- Funnel chest
Show 2 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.
- 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.). CSGALNACT1 gene: chondroitin sulfate N-acetylgalactosaminyltransferase 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/csgalnact1
Dante Labs. CSGALNACT1 gene: chondroitin sulfate N-acetylgalactosaminyltransferase 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/csgalnact1
One test. A lifetime of answers.
From $449Free shipping · Results in 6–8 weeks