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PROTEIN PHOSPHATASE, EF-HAND CALCIUM-BINDING DOMAIN 1; PPEF1

PROTEIN PHOSPHATASE, EF-HAND CALCIUM-BINDING DOMAIN 1; PPEF1

Alternative titles; symbolsPROTEIN PHOSPHATASE, SERINE/THREONINE TYPE, WITH EF-HAND MOTIFSHGNC Approved Gene Symbol: PPEF1Cytogenetic location: Xp22.13 Genom...

Alternative titles; symbols

  • PROTEIN PHOSPHATASE, SERINE/THREONINE TYPE, WITH EF-HAND MOTIFS

HGNC Approved Gene Symbol: PPEF1

Cytogenetic location: Xp22.13 Genomic coordinates (GRCh38): X:18,675,066-18,827,920 (from NCBI)

▼ Cloning and Expression
X-linked juvenile retinoschisis (RS1; 312700) is a progressive vitreoretinal degeneration that maps to Xp22.2-p22.1. Exon trapping experiments carried out on a YAC clone covering the RS gene candidate region yielded several products. Two of the identified exon trapping products were found by Montini et al. (1997) to correspond to a novel human transcript that was highly homologous to the retinal degeneration gene C (rdgC). In Drosophila melanogaster, this gene is required to prevent light-induced retinal degeneration. In the human, the gene is symbolized PPEF for 'protein protease with EF-hand motifs.' It is a serine/threonine protein phosphatase. PPEF has a coding region of 1,962 bp and 61.7% similarity at the protein level to rdgC. The predicted 653-amino acid protein sequence includes a protein phosphatase catalytic domain at amino acids 150 to 438 and 2 EF-hand calcium-binding domains at its carboxyl end. Montini et al. (1997) noted that RT-PCR experiments revealed what appeared to be alternate splice variants of PPEF1, but no alternatively spliced cDNAs were found. Northern blot analysis revealed that PPEF1 is expressed in the brain, with particularly high expression seen in fetal brain.

▼ Gene Structure
Montini et al. (1997) determined that the PPEF1 gene contains 17 exons.

▼ Mapping
Montini et al. (1997) used YACs in the Xp22 region to localize the PPEF1 locus to the region of the DXS999 marker.

▼ Molecular Genetics
The localization of PPEF1 made it a candidate gene for RS. However, SSCP analysis of 37 RS patients revealed no defects, which led Montini et al. (1997) to conclude that PPEF1 is not involved in RS. Using RT-PCR and the protein truncation test on RNA and SSCP on DNA, van de Vosse et al. (1997) tested the PPEF gene as a candidate for the site of the mutation in retinoschisis. No mutations were identified.

▼ Animal Model
Ramulu et al. (2001) produced mice carrying targeted disruptions in the Ppef1 and Ppef2 (602256) genes. By analyzing both single and double mutant mice, they observed that rod light responses and rhodopsin dephosphorylation kinetics were normal. Furthermore, there was no evidence of retinal degeneration in the PPEF mutant mice. Ramulu et al. (2001) concluded that in contrast to loss of rdgC function in Drosophila, elimination of PPEF function does not cause retinal degeneration in vertebrates.

Tags: XP22.13