PLBD1

Chr 12

phospholipase B domain containing 1

Also known as: LyLAP, PLBL1

NCBI Gene: 79887 ENSG00000121316 UniProt: Q6P4A8

The protein functions as a lysosomal processive monoaminopeptidase that preferentially cleaves hydrophobic amino acids, particularly leucine residues, and plays a key role in degrading hydrophobic transmembrane domains within lysosomes. Mutations cause neurodegenerative disorders with childhood onset, including developmental delay, intellectual disability, and progressive neurological decline. This follows autosomal recessive inheritance and the gene shows tolerance to loss-of-function variants in the general population.

ResearchSummary from RefSeq, UniProt

Predicted to enable phospholipase activity. Predicted to be involved in phospholipid catabolic process. Located in extracellular space. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.26

LOEUF

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Mechanism

Some data sources returned errors (1)