Gene: CP

Alternate names for this Gene: CP-2

Gene 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.

Gene is located in Chromosome: 3

Location in Chromosome : 3q24-q25.1

Description of this Gene: ceruloplasmin

Type of Gene: protein-coding

rs1553759167 in CP gene and Ceruloplasmin deficiency PMID 25864092 2015 Movement disorders and brain iron overload in a new subtype of aceruloplasminemia.

PMID 26777753 2016 Does aceruloplasminemia modulate iron phenotype in thalassemia intermedia?

PMID 11909923 2002 A case of aceruloplasminaemia: abnormal serum ceruloplasmin protein without ferroxidase activity.

PMID 15082597 2004 Iron chelation therapy in aceruloplasminaemia: study of a patient with a novel missense mutation.

PMID 16831606 2006 Hepatic iron overload associated with a decreased serum ceruloplasmin level in a novel clinical type of aceruloplasminemia.

PMID 16629161 2006 Molecular and pathological basis of aceruloplasminemia.

PMID 19095659 2009 Dominant mutants of ceruloplasmin impair the copper loading machinery in aceruloplasminemia.

PMID 28012953 2017 New insights in the neurological phenotype of aceruloplasminemia in Caucasian patients.

PMID 12351628 2002 Consistent with these findings a missense mutation (G631R), resulting in aceruloplasminemia and predicted to alter the interactions at a single type I copper-binding site, results in the synthesis and secretion only of apoceruloplasmin.

rs16861634 in CP gene and Leukemia, Myelocytic, Acute PMID 27903959 2017 Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

rs750451693 in CP gene and Movement Disorders PMID 14719552 2003 Aceruloplasminemia, an iron metabolic disorder.

PMID 18200628 2008 Aceruloplasminemia: a novel mutation in a family with marked phenotypic variability.

PMID 25089372 2015 Aceruloplasminaemia: a family with a novel mutation and long-term therapy with deferasirox.

PMID 16629161 2006 Molecular and pathological basis of aceruloplasminemia.

rs13072552 in CP gene and Serum ceruloplasmin measurement PMID 22075249 2012 Clinical and genetic association of serum ceruloplasmin with cardiovascular risk.