Gene: [0Xp22/PPEF1] protein phosphatase, EF hand calcium-binding domain 1;

COM

Montini-1997 assigned PPEF1 gene to Chr Xp22 (to the region of the DXS999 marker)."

MUT

Montini-1997 and van de Vosse-1997 tested the PPEF1 gene as a candidate for the site of the mutation in juvenile retinoschisis (GEM:0Xp22/RS1). No mutations were identified."

REL

GEM:04^/PPEF2.

REF

CLO,SEQ,LOC,MUT "Montini E &: Hum Mol Genet, 6, 1137-1145, 1997
MUT "van de Vosse &: Hum Genet, 101, N2, 235-237, 1997

CLA

coding, basic

LOC

0X p22

MIM

MIM: 300109