ABCC6 Chromosome 16
ATP binding cassette subfamily C member 6
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What This Gene Does
The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). The encoded protein, a member of the MRP subfamily, is involved in multi-drug resistance. Mutations in this gene cause pseudoxanthoma elasticum. Alternatively spliced transcript variants that encode different proteins have been described for this gene. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
ATP binding cassette subfamily C
Locus Type
gene with protein product
Location
16p13.11
Ensembl
ENSG00000091262
Associated Conditions (17)
Autosomal recessive inherited pseudoxanthoma elasticum
Pseudoxanthoma elasticum
forme fruste
Arterial calcification
generalized
of infancy
2
ABCC6-related disorder
Inborn genetic diseases
Retinal dystrophy
See cases
Familial cancer of breast
Abnormality of the eye
Papule
Cutis laxa
Optic atrophy
Lung cancer
Key Variants
RS114179357
Conflicting classifications of pathogenicity
Health Risk
RS1179736830
Conflicting classifications of pathogenicity
Health Risk
RS1195177013
Conflicting classifications of pathogenicity
Autosomal recessive inherited pseudoxanthoma elasticum, Pseudoxanthoma elasticum, forme fruste
Health Risk
RS1252723064
Conflicting classifications of pathogenicity
Arterial calcification, generalized, of infancy
Health Risk
RS1371067962
Conflicting classifications of pathogenicity
Arterial calcification, generalized, of infancy
Health Risk
RS138700741
Conflicting classifications of pathogenicity
ABCC6-related disorder, Autosomal recessive inherited pseudoxanthoma elasticum, Pseudoxanthoma elasticum
Health Risk
RS141309818
Conflicting classifications of pathogenicity
Health Risk
RS141449320
Conflicting classifications of pathogenicity
Arterial calcification, generalized, of infancy
Health Risk
RS148326870
Conflicting classifications of pathogenicity
Health Risk
RS1486197417
Conflicting classifications of pathogenicity
Autosomal recessive inherited pseudoxanthoma elasticum, Pseudoxanthoma elasticum, forme fruste
Health Risk
RS149510465
Conflicting classifications of pathogenicity
Autosomal recessive inherited pseudoxanthoma elasticum, Pseudoxanthoma elasticum, forme fruste
Health Risk
RS151187637
Conflicting classifications of pathogenicity
Autosomal recessive inherited pseudoxanthoma elasticum, Pseudoxanthoma elasticum, forme fruste
Health Risk
All Variants (314)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS72653769 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive inherited pseudoxanthoma elasticum, ABCC6-related disorder, Autosomal recessive inherited pseudoxanthoma elasticum |
| RS72653772 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive inherited pseudoxanthoma elasticum, Arterial calcification, generalized |
| RS72653777 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive inherited pseudoxanthoma elasticum, Arterial calcification, generalized |
| RS72653786 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive inherited pseudoxanthoma elasticum, Arterial calcification, generalized |
| RS72653787 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive inherited pseudoxanthoma elasticum, Arterial calcification, generalized |
| RS72653788 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive inherited pseudoxanthoma elasticum, Arterial calcification, generalized |
| RS72653794 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive inherited pseudoxanthoma elasticum, ABCC6-related disorder, Arterial calcification |
| RS72664204 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive inherited pseudoxanthoma elasticum, Arterial calcification, generalized |
| RS72664214 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive inherited pseudoxanthoma elasticum, Arterial calcification, generalized |
| RS72664218 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive inherited pseudoxanthoma elasticum, Autosomal recessive inherited pseudoxanthoma elasticum |
| RS72664227 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive inherited pseudoxanthoma elasticum, Arterial calcification, generalized |
| RS769405586 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive inherited pseudoxanthoma elasticum, Arterial calcification, generalized |
| RS772434460 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive inherited pseudoxanthoma elasticum, Arterial calcification, generalized |
| RS775853778 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive inherited pseudoxanthoma elasticum, Pseudoxanthoma elasticum, forme fruste |