Fig. 4 | Genetics in Medicine

Fig. 4

From: The Liberfarb syndrome, a multisystem disorder affecting eye, ear, bone, and brain development, is caused by a founder pathogenic variant in the PISD gene

Fig. 4

Major phospholipid biosynthetic pathways, genes involved, and subcellular localization of the encoded enzymes.PTDSS1,32PCYT1A,33 andPISD from this study (all in red font) are associated with syndromic skeletal dysplasias. PE is synthesized from two main pathways: the CDP-ethanolamine pathway (Kennedy pathway),34,35 and the PS decarboxylation (PISD) pathway, which takes place in inner mitochondrial membrane.2,36CDP-etn CDP-ethanolamine;CEPT1 choline/ethanolamine phosphotransferase 1; CHKA,B choline kinase; PCYT1A,B, phosphate cytidylyltransferase; CHPT1 choline phosphotransferase 1; ER endoplasmic reticulum; ETNK2 ethanolamine kinase; MAM mitochondria-associated membranes;PC phosphatidylcholine;PCYT2 phosphate cytidylyltransferase 2, ethanolamine; PE phosphatidylethanolamine; PEMT phosphatidylethanolamine N-methytransferase;PISD phosphatidylserine decarboxylase; PS phosphatidylserine; PTDSS1,2 phosphatidylserine synthase.

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