XK X-linked Kx blood group antigen, Kell and VPS13A binding protein
Gene ID: 7504, updated on 5-Mar-2024Gene type: protein coding
Also known as: KX; NA; NAC; X1k; XKR1
- See all available tests in GTR for this gene
- Go to complete Gene record for XK
- Go to Variation Viewer for XK variants
Summary
This locus controls the synthesis of the Kell blood group 'precursor substance' (Kx). Mutations in this gene have been associated with McLeod syndrome, an X-linked, recessive disorder characterized by abnormalities in the neuromuscular and hematopoietic systems. The encoded protein has structural characteristics of prokaryotic and eukaryotic membrane transport proteins. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| McLeod neuroacanthocytosis syndrome | See labs |
Genomic context
- Location:
- Xp21.1
- Sequence:
- Chromosome: X; NC_000023.11 (37685791..37732130)
- Total number of exons:
- 4
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for XK variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
- XK @ LOVD
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