Article

Bioinformatics analysis identifies sequence determinants of enzymatic activity for the PHARC associated lipase ABHD12

2025-02-23

Abstract excerpt

<h4>ABSTRACT</h4> In humans, PHARC ( p olyneuropathy, h earing loss, a taxia, r etinitis pigmentosa, and c ataract) is an early onset autosomal recessive neurological disorder caused by deleterious mutations to ABHD12 (α/β-hydrolase domain protein # 12). Biochemically, ABHD12 functions as a lipase, and catalyzes the hydrolysis of lysophosphatidylserine (lyso-PS) (lyso-PS lipase). By doing so, it controls the...

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Literature Corpus work: 1aa6ed22-3270-54b0-9669-8d7db3df2b10
DOI: 10.1101/2025.02.19.639194

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