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 X-Linked Juvenile Retinoschisis. Among its related pathways are Phototransduction 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.