PISD

Chr 22

phosphatidylserine decarboxylase

Also known as: DJ858B16, LIBF, PSDC, PSSC, dJ858B16.2

NCBI Gene: 23761 ENSG00000241878 UniProt: Q9UG56

The protein catalyzes the conversion of phosphatidylserine to phosphatidylethanolamine in the inner mitochondrial membrane and plays a central role in phospholipid metabolism and interorganelle trafficking of phosphatidylserine. Mutations cause Liberfarb syndrome, inherited in an autosomal recessive pattern. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.578).

ResearchSummary from RefSeq, OMIM, UniProt

The protein encoded by this gene catalyzes the conversion of phosphatidylserine to phosphatidylethanolamine in the inner mitochondrial membrane. The encoded protein is active in phospholipid metabolism and interorganelle trafficking of phosphatidylserine. [provided by RefSeq, May 2016]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtLiberfarb syndrome

Clinical highlights

Gene-disease validity (ClinGen)

Liberfarb syndrome · ARModerateconsider for supplementary testing

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.58

LOEUF

LOF

Mechanism· G2P

Some data sources returned errors (1)

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