Gene
XK
X-linked Kx blood group antigen, Kell and VPS13A binding protein
- HGNC 12811↗(opens in a new tab)
- Ensembl gene ENSG00000047597↗(opens in a new tab)
- NCBI Gene 7504↗(opens in a new tab)
Summary
- Cytogenetic location
- Xp21.1
- Coordinates
- Chromosome X: 37,685,791–37,732,130 (GRCh38)
- Exons
- 3 exons across 46.3 kb
- Protein
- 444 amino acids
- Also known as
- XKR1, Kx, X1k
- Previous symbols
- NA, NAC
- MANE Select transcript
- ENST00000378616.5NM_021083.4
- 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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Neuroacanthocytosis and Huntington Disease Phenocopies
- Neuroacanthocytosis
A group of disorders with abnormally shaped red blood cells and neurodegeneration, including VPS13A-related chorea-acanthocytosis (recessive) and XK-related McLeod syndrome (X-linked).
- 1 GenCC submitter rates it definitive or strong
What knowing changes
Neurological and psychiatric care; people with McLeod syndrome need Kell-compatible blood if transfused.
How XK 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 5.2 kb of the gene's 46.3 kb; 1,335 of those bases code for the protein.
How a genome test reads XK
3
positions in XK 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 46.3 kb of XK, introns included, not only the 5.2 kb of exons.
Genes linked to the same conditions
Traits linked to XK
The Human Phenotype Ontology lists these as features of the rare conditions XK can cause. Each trait's page lists the other genes linked to it.
Laboratory abnormality
- Elevated blood creatine phosphokinase
- Decreased circulating haptoglobin concentration
- Increased circulating lactate dehydrogenase concentration
- Elevated circulating alanine aminotransferase concentration
- Elevated circulating aspartate aminotransferase concentration
- Elevated gamma-glutamyltransferase level
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.). XK gene: X-linked Kx blood group antigen, Kell and VPS13A binding protein. Retrieved 17 October 2026, from https://dantelabs.com/genes/xk
Dante Labs. XK gene: X-linked Kx blood group antigen, Kell and VPS13A binding protein [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/xk
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