Aliases for PPEF1 Gene
- Protein Phosphatase With EF-Hand Domain 1 2 3 5
- Protein Phosphatase 7, Catalytic Subunit, Alpha Isozyme 2 3
- Protein Phosphatase, EF-Hand Calcium Binding Domain 1 2 3
- Serine/Threonine-Protein Phosphatase With EF-Hands 1 3 4
- Protein Phosphatase With EF Calcium-Binding Domain 3 4
- EC 188.8.131.52 4 51
- PPP7CA 2 3
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 Retinitis Pigmentosa 35. Among its related pathways are Signaling by GPCR and Metabolism of fat-soluble vitamins. Gene Ontology (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 Summary for PPEF1 Gene
May have a role in the recovery or adaptation response of photoreceptors. May have a role in development.