XK Chromosome X
X-linked Kx blood group antigen, Kell and VPS13A binding protein
Upload your DNA to see your personal genotypes for variants in XK.
What This Gene Does
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]
Gene Info
Gene Group
"Blood group antigens|XK related family"
Locus Type
gene with protein product
Location
Xp21.1
Ensembl
ENSG00000047597
Associated Conditions (4)
Elevated circulating creatine kinase concentration
McLeod neuroacanthocytosis syndrome
Inborn genetic diseases
XK-related disorder
Key Variants
RS2519163494
Likely pathogenic
Elevated circulating creatine kinase concentration, Elevated circulating creatine kinase concentration
Health Risk
RS104894953
Pathogenic
McLeod neuroacanthocytosis syndrome, McLeod neuroacanthocytosis syndrome
Health Risk
RS104894954
Pathogenic
McLeod neuroacanthocytosis syndrome, McLeod neuroacanthocytosis syndrome
Health Risk
RS1556450491
Pathogenic
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1602145991
Pathogenic
McLeod neuroacanthocytosis syndrome, McLeod neuroacanthocytosis syndrome
Health Risk
RS1602158863
Pathogenic
McLeod neuroacanthocytosis syndrome, McLeod neuroacanthocytosis syndrome
Health Risk
RS1602159120
Pathogenic
McLeod neuroacanthocytosis syndrome, McLeod neuroacanthocytosis syndrome
Health Risk
RS2146834690
Pathogenic
McLeod neuroacanthocytosis syndrome, McLeod neuroacanthocytosis syndrome
Health Risk
RS2519163580
Pathogenic
Health Risk
RS28933690
Pathogenic
McLeod neuroacanthocytosis syndrome, McLeod neuroacanthocytosis syndrome
Health Risk
RS868990544
Pathogenic
XK-related disorder, XK-related disorder
Health Risk
RS2146834483
Pathogenic/Likely pathogenic
McLeod neuroacanthocytosis syndrome, McLeod neuroacanthocytosis syndrome
Health Risk
All Variants (12)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2519163494 | Health Risk | Likely pathogenic | Elevated circulating creatine kinase concentration, Elevated circulating creatine kinase concentration |
| RS104894953 | Health Risk | Pathogenic | McLeod neuroacanthocytosis syndrome, McLeod neuroacanthocytosis syndrome |
| RS104894954 | Health Risk | Pathogenic | McLeod neuroacanthocytosis syndrome, McLeod neuroacanthocytosis syndrome |
| RS1556450491 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1602145991 | Health Risk | Pathogenic | McLeod neuroacanthocytosis syndrome, McLeod neuroacanthocytosis syndrome |
| RS1602158863 | Health Risk | Pathogenic | McLeod neuroacanthocytosis syndrome, McLeod neuroacanthocytosis syndrome |
| RS1602159120 | Health Risk | Pathogenic | McLeod neuroacanthocytosis syndrome, McLeod neuroacanthocytosis syndrome |
| RS2146834690 | Health Risk | Pathogenic | McLeod neuroacanthocytosis syndrome, McLeod neuroacanthocytosis syndrome |
| RS2519163580 | Health Risk | Pathogenic | — |
| RS28933690 | Health Risk | Pathogenic | McLeod neuroacanthocytosis syndrome, McLeod neuroacanthocytosis syndrome |
| RS868990544 | Health Risk | Pathogenic | XK-related disorder, XK-related disorder |
| RS2146834483 | Health Risk | Pathogenic/Likely pathogenic | McLeod neuroacanthocytosis syndrome, McLeod neuroacanthocytosis syndrome |