Aliases for PPEF1 Gene
External Ids for PPEF1 Gene
Previous HGNC Symbols for PPEF1 Gene
Previous GeneCards Identifiers for PPEF1 Gene
This gene encodes a member of the serine/threonine protein phosphatase with EF-hand motif family. The protein contains a protein phosphatase catalytic domain, and at least two EF-hand calcium-binding motifs in its C terminus. Although its substrate(s) is unknown, the encoded protein has been suggested to play a role in specific sensory neuron function and/or development. This gene shares high sequence similarity with the Drosophila retinal degeneration C (rdgC) gene. Several alternatively spliced transcript variants, each encoding a distinct isoform, have been described. [provided by RefSeq, Jul 2008]
GeneCards Summary for PPEF1 Gene
PPEF1 (Protein Phosphatase With EF-Hand Domain 1) is a Protein Coding gene. Diseases associated with PPEF1 include Retinal Degeneration and Pineal Parenchymal Tumor Of Intermediate Differentiation. Among its related pathways are Metabolism of fat-soluble vitamins and Signaling by GPCR. GO annotations related to this gene include calcium ion binding and iron ion binding. An important paralog of this gene is PPEF2.
UniProtKB/Swiss-Prot for PPEF1 Gene
May have a role in the recovery or adaptation response of photoreceptors. May have a role in development.