Gene
XPA
XPA, DNA damage recognition and repair factor
- HGNC 12814(opens in a new tab)
- Ensembl gene ENSG00000136936(opens in a new tab)
- NCBI Gene 7507(opens in a new tab)
Summary
- Cytogenetic location
- 9q22.33
- Coordinates
- Chromosome 9: 97,674,909–97,697,340 (GRCh38)
- Exons
- 6 exons across 22.4 kb
- Protein
- 273 amino acids
- Inheritance
- Autosomal recessive
- Also known as
- XPAC, XP1
- MANE Select transcript
- ENST00000375128.5NM_000380.4
- 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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DNA Repair Disease
- Autosomal recessive
A disease that has its basis in the disruption of DNA repair.
- ClinGen rates the link definitive
- 6 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 XPA 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 1.4 kb of the gene's 22.4 kb; 822 of those bases code for the protein.
How a genome test reads XPA
64
positions in XPA 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 22.4 kb of XPA, introns included, not only the 1.4 kb of exons.
Traits linked to XPA
The Human Phenotype Ontology lists these as features of the rare conditions XPA can cause. Each trait's page lists the other genes linked to it.
Abnormality of head or neck
- Abnormal dentition
- Small dilated blood vessels near membrane covering front of eye and eyelids
- Abnormally small head
- Adhesion of eyelids
- Enlargement of craniofacial bones
- Everted eyelid
- Eyelid folded in
- Flat nasal alae
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.
- 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.). XPA gene: XPA, DNA damage recognition and repair factor. Retrieved 16 October 2026, from https://dantelabs.com/genes/xpa
Dante Labs. XPA gene: XPA, DNA damage recognition and repair factor [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/xpa
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