PLEKHN1

Chr 1

pleckstrin homology domain containing N1

Also known as: CLPABP

NCBI Gene: 84069 ENSG00000187583 UniProt: Q494U1

The PLEKHN1 protein binds specific phospholipids and regulates mRNA stability, particularly controlling leptin mRNA through interactions with RNA-binding proteins. Biallelic mutations cause intermediate form of maple syrup urine disease, an autosomal recessive disorder affecting branched-chain amino acid metabolism that typically presents in infancy with feeding difficulties, developmental delays, and metabolic decompensation. This gene shows minimal constraint against loss-of-function variants (LOEUF 1.124), consistent with recessive inheritance where heterozygous carriers are unaffected.

ResearchSummary from RefSeq, UniProt

Enables phospholipid binding activity. Involved in 3'-UTR-mediated mRNA destabilization; positive regulation of apoptotic process; and response to hypoxia. Located in cytoskeleton; mitochondrial membrane; and plasma membrane. [provided by Alliance of Genome Resources, Jun 2026]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.12

LOEUF

GOF

Mechanism· predicted

Some data sources returned errors (1)