CP Chromosome 3
Ceruloplasmin
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What This Gene Does
The protein encoded by this gene is a metalloprotein that binds most of the copper in plasma and is involved in the peroxidation of Fe(II)transferrin to Fe(III) transferrin. Mutations in this gene cause aceruloplasminemia, which results in iron accumulation and tissue damage, and is associated with diabetes and neurologic abnormalities. Two transcript variants, one protein-coding and the other not protein-coding, have been found for this gene. [provided by RefSeq, Feb 2012]
Gene Info
Gene Group
Multicopper ferroxidase family
Locus Type
gene with protein product
Location
3q24-q25.1
Ensembl
ENSG00000047457
Associated Conditions (9)
Deficiency of ferroxidase
Hypoceruloplasminemia
CP-related disorder
Inborn genetic diseases
Familial cancer of breast
Gastric cancer
Colorectal cancer
Cervical cancer
Neurodegeneration with brain iron accumulation
Key Variants
RS1064797073
Conflicting classifications of pathogenicity
Deficiency of ferroxidase, Deficiency of ferroxidase
Health Risk
RS138646392
Conflicting classifications of pathogenicity
Deficiency of ferroxidase, Deficiency of ferroxidase
Health Risk
RS139633388
Conflicting classifications of pathogenicity
Deficiency of ferroxidase, Hypoceruloplasminemia, CP-related disorder
Health Risk
RS142503847
Conflicting classifications of pathogenicity
Deficiency of ferroxidase, CP-related disorder, Deficiency of ferroxidase
Health Risk
RS144401501
Conflicting classifications of pathogenicity
Deficiency of ferroxidase, Inborn genetic diseases, CP-related disorder
Health Risk
RS145481253
Conflicting classifications of pathogenicity
Deficiency of ferroxidase, Inborn genetic diseases, Deficiency of ferroxidase
Health Risk
RS147034302
Conflicting classifications of pathogenicity
Deficiency of ferroxidase, Inborn genetic diseases, Familial cancer of breast
Health Risk
RS148041351
Conflicting classifications of pathogenicity
Deficiency of ferroxidase, Inborn genetic diseases, Deficiency of ferroxidase
Health Risk
RS149790356
Conflicting classifications of pathogenicity
Deficiency of ferroxidase, Deficiency of ferroxidase
Health Risk
RS150303869
Conflicting classifications of pathogenicity
Deficiency of ferroxidase, CP-related disorder, Deficiency of ferroxidase
Health Risk
RS150733154
Conflicting classifications of pathogenicity
Deficiency of ferroxidase, CP-related disorder, Deficiency of ferroxidase
Health Risk
RS151304828
Conflicting classifications of pathogenicity
Deficiency of ferroxidase, Deficiency of ferroxidase
Health Risk
All Variants (107)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS772867888 | Health Risk | Pathogenic | Deficiency of ferroxidase, Deficiency of ferroxidase |
| RS779026502 | Health Risk | Pathogenic | Deficiency of ferroxidase, Deficiency of ferroxidase |
| RS1043139127 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of ferroxidase, Deficiency of ferroxidase |
| RS1135401784 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of ferroxidase, Neurodegeneration with brain iron accumulation, Deficiency of ferroxidase |
| RS386134147 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of ferroxidase, Neurodegeneration with brain iron accumulation, CP-related disorder |
| RS753254095 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of ferroxidase, Deficiency of ferroxidase |
| RS776936158 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of ferroxidase, Neurodegeneration with brain iron accumulation, Deficiency of ferroxidase |