CP

ceruloplasmin

Tier: Cilia-Associated Genes

Ensembl:: ENSG00000047457
OMIM:: 117700
Synonyms:: AB073614

Ciliogenesis screen results (1 screens)

Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-2.99) PMID:26167766

Phenotypes

Mouse phenotype:: abnormal sensory capabilities/reflexes/nociception; decreased circulating iron level; decreased mean corpuscular volume; decreased mean corpuscular hemoglobin; abnormal sleep behavior; decreased mean corpuscular hemoglobin concentration; decreased hemoglobin content; hypoalgesia
Human ciliopathy phenotype:: cerebellar ataxia

Ciliopathy associations

Retinal Dystrophy/Degeneration

Subcellular localization

No ciliary localization reported (cilia-associated gene).

References: PMID:37439255

Functional category

Motile cilium & axoneme

Function

Mutations in CP cause Retinal Degeneration (PMID: 37439255).

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