Phosphatidylserine decarboxylase proenzyme, mitochondrial

Definition:

Catalyzes the formation of phosphatidylethanolamine (PtdEtn) from phosphatidylserine (PtdSer). Plays a central role in phospholipid metabolism and in the interorganelle trafficking of phosphatidylserine.

References:

[1]. Tian Zhao, et al. PISD is a mitochondrial disease gene causing skeletal dysplasia, cataracts, and white matter changes. Life Sci Alliance. 2019 Mar 11;2(2):e201900353. [Content Brief]

[2]. Katta M Girisha, et al. The homozygous variant c.797G>A/p.(Cys266Tyr) in PISD is associated with a Spondyloepimetaphyseal dysplasia with large epiphyses and disturbed mitochondrial function. Hum Mutat. 2019 Mar;40(3):299-309. [Content Brief]

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