CP ceruloplasmin
Gene ID: 1356, updated on 17-Jun-2024Gene type: protein coding
Also known as: CP-2; AB073614
- See all available tests in GTR for this gene
- Go to complete Gene record for CP
- Go to Variation Viewer for CP variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Clinical and genetic association of serum ceruloplasmin with cardiovascular risk. GeneReviews: Not available | |
| Deficiency of ferroxidase MedGen: C0878682OMIM: 604290GeneReviews: Aceruloplasminemia, Neurodegeneration with Brain Iron Accumulation Disorders Overview | See labs |
| Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women. GeneReviews: Not available |
Genomic context
- Location:
- 3q24-q25.1
- Sequence:
- Chromosome: 3; NC_000003.12 (149162414..149221829, complement)
- Total number of exons:
- 21
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for CP variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- CP database
- 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
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