InterPro domain: IPR007217

General Information

  • Number of genes 359
  • Gene duplication stats Loading...
  • Associated GO terms GO:0006506  

Abstract

PER1 is required for GPI-phospholipase A2 activity and is involved in lipid remodelling of GPI-anchored proteins [ 1 ]. PER1 is part of the CREST superfamily [ 2 ]. Human PERLD1 is a functional homologue of PER1, and is also known as PGAP3. Mutations in PGAP3 cause hyperphosphatasia with mental retardation syndrome [ 3 ].


1. PER1 is required for GPI-phospholipase A2 activity and involved in lipid remodeling of GPI-anchored proteins. Mol. Biol. Cell 17, 5253-64
2. CREST--a large and diverse superfamily of putative transmembrane hydrolases. Biol. Direct 6, 37
3. PGAP3-related hyperphosphatasia with mental retardation syndrome: Report of 10 new patients and a homozygous founder mutation. Clin. Genet. 93, 84-91

Species distribution

Gene table

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