Ceruloplasmin

Alternative Names

  • CP
  • Ferroxidase
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OMIM Number

117700

NCBI Gene ID

1356

Uniprot ID

P00450

Length

59,416 bases

No. of Exons

21

No. of isoforms

1

Protein Name

Ceruloplasmin

Molecular Mass

122219 Da

Amino Acid Count

1065

Genomic Location

chr3:149,162,414-149,221,829

Gene Map Locus
3q24-q25.1

Description

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. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_000096.4:c.944A>GQatarNC_000003.12:g.149207455T>CLikely Benign, Uncertain SignificanceLikely BenignNG_011800.3:g.19591A>G; NM_000096.4:c.944A>G; NP_000087.2:p.Asn315Ser370682704343778
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