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Biosynthesis of coenzyme A (CoA) from pantothenic acid (vitamin B5) is an essential universal pathway in prokaryotes and eukaryotes. PPCS (EC 6.3.2.5), one of the last enzymes in this pathway, converts phosphopantothenate to phosphopantothenoylcysteine (Daugherty et al., 2002 [PubMed 11923312]).[supplied by OMIM, Mar 2008]

This gene encodes a multidomain serine protease inhibitor that contains 15 potential inhibitory domains. The inhibitor may play a role in skin and hair morphogenesis and anti-inflammatory and/or antimicrobial protection of mucous epithelia. Mutations may result in Netherton syndrome, a disorder characterized by ichthyosis, defective cornification, and atopy. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

PLSCR3 (phospholipid scramblase 3) may mediate accelerated ATP-independent bidirectional transbilayer migration of phospholipids upon binding calcium ions that results in a loss of phospholipid asymmetry in the plasma membrane. May play a central role in the initiation of fibrin clot formation, in the activation of mast cells and in the recognition of apoptotic and injured cells by the reticuloendothelial system. Members of this family, PLS1 and PLS3 are both substrates of Protein kinase C (

PEF1 (penta-EF hand domain containing 1) is a Ca(2+)-binding protein that belongs to the penta-EF hand family which shares similarities to the apoptosis linked gene ALG-2. PEF1 heterodimerizes with PDCD6/ALG2 and dissociates from PDCD6/ALG2 in the presence of Ca(2+).