QuickView for Ceruloplasmin;jsessionid=32C3D947D01E929BA0B7A92CC27CC40A;jsessionid=9D9A01D529B4243A0CAF18208DC2FA83 (gene)

Gene Symbol:

Cp Mus musculus

Full name:

ceruloplasmin

Synonyms:

D3Ertd555e, ceruloplasmin, ferroxidase

Genomic Location:

Chr 3: 19857054-19907609

Description:

The protein encoded by this gene is a copper-containing glycoprotein found soluble in the serum and GPI-anchored in other tissues. It oxidizes Fe(II) to Fe(III) and is proposed to play an important role in iron homeostasis. In humans mutations of this gene cause aceruloplasminemia, which is characterized by retinal degeneration, diabetes, anemia an...

View Full Description

The protein encoded by this gene is a copper-containing glycoprotein found soluble in the serum and GPI-anchored in other tissues. It oxidizes Fe(II) to Fe(III) and is proposed to play an important role in iron homeostasis. In humans mutations of this gene cause aceruloplasminemia, which is characterized by retinal degeneration, diabetes, anemia and neurological symptoms. In mouse deficiency of this gene in combination with a deficiency of its homolog hephaestin causes retinal degeneration and serves as a pathophysiological model for aceruloplasminemia and age-related macular degeneration. Alternative splicing results in multiple transcript variants that encode different protein isoforms.

View Less

Orthologs:

Homo sapiens ,  Rattus norvegicus ,  Macaca mulatta ,  Canis lupus familiaris ,  Pan troglodytes ,  Bos taurus ,  Gallus gallus ,  Danio rerio

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

AACTTT_UNKNOWN ,  CEBPB_02 ,  HNF3ALPHA_Q6 ,  PAX_Q6 ,  TGTYNNNNNRGCARM_UNKNOWN ,  TATAAA_TATA_01

search → result