PPEF1
Description
The PPEF1 (protein phosphatase with EF-hand domain 1) is a protein-coding gene located on chromosome X.
PPEF1 encodes a serine/threonine protein phosphatase with EF-hand motifs. It 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, PPEF1 is suggested to play a role in specific sensory neuron function and/or development. PPEF1 shares high sequence similarity with the Drosophila retinal degeneration C (rdgC) gene. Multiple alternatively spliced transcript variants, each encoding a distinct isoform, have been described. PPEF1 interacts with Calmodulin 1.
PPEF1 is also known as PP7, PPEF, PPP7C, PPP7CA.
Associated Diseases
- breast cancer
- cancer
- X-linked retinoschisis
- nonpapillary renal cell carcinoma
- retinal degeneration
- retinoblastoma
