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Protein Coding Gene : Pde6c phosphodiesterase 6C, cGMP specific, cone, alpha prime

Primary Identifier  MGI:105956 Organism  mouse, laboratory
Chromosome  19 NCBI Gene Number  110855
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0)

Predicted to enable 3',5'-cyclic-AMP phosphodiesterase activity and 3',5'-cyclic-GMP phosphodiesterase activity. Acts upstream of or within phototransduction, visible light; retinal cone cell development; and visual perception. Predicted to be located in plasma membrane. Is expressed in brain and retina. Used to study achromatopsia and achromatopsia 2. Human ortholog(s) of this gene implicated in cone-rod dystrophy. Orthologous to human PDE6C (phosphodiesterase 6C).
PHENOTYPE: A spontaneous mutation in this gene results in abnormal cone photoreceptor function. [provided by MGI curators]
  • synonyms:
  • cone photoreceptor function loss 1,
  • Pde6c,
  • cpfl1,
  • MGD-MRK-33635,
  • phosphodiesterase 6C, cGMP specific, cone, alpha prime,
  • MGI:1890403

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Genome

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Canonical gene --> CDSs in specific strains.

Canonical gene --> Exons in specific strains

Canonical gene --> Strain-specific IDs, biotypes, and locations

Canonical gene --> Transcripts in specific strains.

Features --> Overlapping features

Proteins

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Function

Mouse features --> Functions (GO terms)

Homology

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Disease

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