ABCB6 Chromosome 2
ATP binding cassette subfamily B member 6 (LAN blood group)
Upload your DNA to see your personal genotypes for variants in ABCB6.
What This Gene Does
This gene encodes a member of the ATP-binding cassette (ABC) transporter superfamily. ABC proteins transport various molecules across extra- and intra-cellular membranes. This protein is a member of the heavy metal importer subfamily and plays a role in porphyrin transport. This gene is the molecular basis of the Langereis (Lan) blood group antigen and mutations in this gene underlie familial pseudohyperkalemia and dyschromatosis universalis hereditaria. [provided by RefSeq, Mar 2017]
Gene Info
Gene Group
"Blood group antigens|ATP binding cassette subfamily B"
Locus Type
gene with protein product
Location
2q35
Ensembl
ENSG00000115657
Associated Conditions (14)
Protoporphyria
erythropoietic
1
Variegate porphyria
Acute intermittent porphyria
Hereditary coproporphyria
Microphthalmia
isolated
with coloboma 7
ABCB6-related disorder
Inborn genetic diseases
Dyschromatosis universalis hereditaria 3
Langereis blood group
Familial pseudohyperkalemia
Key Variants
RS13402964
Conflicting classifications of pathogenicity
Health Risk
RS145526996
Conflicting classifications of pathogenicity
Protoporphyria, erythropoietic, 1
Health Risk
RS150221689
Conflicting classifications of pathogenicity
Microphthalmia, isolated, with coloboma 7
Health Risk
RS201104967
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS201416447
Conflicting classifications of pathogenicity
Health Risk
RS377591749
Conflicting classifications of pathogenicity
ABCB6-related disorder, ABCB6-related disorder
Health Risk
RS541845688
Conflicting classifications of pathogenicity
Acute intermittent porphyria, Acute intermittent porphyria
Health Risk
RS61733629
Conflicting classifications of pathogenicity
Dyschromatosis universalis hereditaria 3, Microphthalmia, isolated
Health Risk
RS763768429
Conflicting classifications of pathogenicity
Dyschromatosis universalis hereditaria 3, Familial pseudohyperkalemia, Microphthalmia
Health Risk
RS770921703
Conflicting classifications of pathogenicity
ABCB6-related disorder, ABCB6-related disorder
Health Risk
RS201100181
Likely pathogenic
Dyschromatosis universalis hereditaria 3, Dyschromatosis universalis hereditaria 3
Health Risk
RS764893806
Likely pathogenic
Familial pseudohyperkalemia, Langereis blood group, Microphthalmia
Health Risk
All Variants (23)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS13402964 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS145526996 | Health Risk | Conflicting classifications of pathogenicity | Protoporphyria, erythropoietic, 1 |
| RS150221689 | Health Risk | Conflicting classifications of pathogenicity | Microphthalmia, isolated, with coloboma 7 |
| RS201104967 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS201416447 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS377591749 | Health Risk | Conflicting classifications of pathogenicity | ABCB6-related disorder, ABCB6-related disorder |
| RS541845688 | Health Risk | Conflicting classifications of pathogenicity | Acute intermittent porphyria, Acute intermittent porphyria |
| RS61733629 | Health Risk | Conflicting classifications of pathogenicity | Dyschromatosis universalis hereditaria 3, Microphthalmia, isolated |
| RS763768429 | Health Risk | Conflicting classifications of pathogenicity | Dyschromatosis universalis hereditaria 3, Familial pseudohyperkalemia, Microphthalmia |
| RS770921703 | Health Risk | Conflicting classifications of pathogenicity | ABCB6-related disorder, ABCB6-related disorder |
| RS201100181 | Health Risk | Likely pathogenic | Dyschromatosis universalis hereditaria 3, Dyschromatosis universalis hereditaria 3 |
| RS764893806 | Health Risk | Likely pathogenic | Familial pseudohyperkalemia, Langereis blood group, Microphthalmia |
| RS387906910 | Health Risk | Pathogenic | Microphthalmia, isolated, with coloboma 7 |
| RS397514756 | Health Risk | Pathogenic | Dyschromatosis universalis hereditaria 3, Dyschromatosis universalis hereditaria 3 |
| RS397514757 | Health Risk | Pathogenic | Dyschromatosis universalis hereditaria 3, Dyschromatosis universalis hereditaria 3 |
| RS397514758 | Health Risk | Pathogenic | Dyschromatosis universalis hereditaria 3, Dyschromatosis universalis hereditaria 3 |
| RS754667801 | Health Risk | Pathogenic | Familial pseudohyperkalemia, Familial pseudohyperkalemia |
| RS796065353 | Health Risk | Pathogenic | Dyschromatosis universalis hereditaria 3, Dyschromatosis universalis hereditaria 3 |
| RS1559234527 | Trait | Affects | Langereis blood group, Langereis blood group |
| RS387906908 | Trait | Affects | Langereis blood group, Langereis blood group |
| RS387906909 | Trait | Affects | Langereis blood group, Langereis blood group |
| RS765925019 | Trait | Affects | Langereis blood group, Langereis blood group |
| RS879255549 | Trait | Affects | Langereis blood group, Langereis blood group |