LAPTM4B

Chr 8

lysosomal protein transmembrane 4 beta

Also known as: LAPTM4beta, LC27

NCBI Gene: 55353 ENSG00000104341 UniProt: Q86VI4 OMIM: 613296

The LAPTM4B protein is required for optimal lysosomal function and regulates lysosomal membrane permeability, while also controlling EGFR degradation and facilitating ceramide transport from late endosomes. Mutations in LAPTM4B cause autosomal recessive cerebral atrophy with pontocerebellar hypoplasia, a severe neurodevelopmental disorder affecting brain development with onset in infancy or early childhood. The gene shows low constraint against loss-of-function variants, consistent with recessive inheritance where both copies must be affected to cause disease.

OMIM ResearchSummary from RefSeq, UniProt

Enables ceramide binding activity; enzyme binding activity; and phosphatidylinositol bisphosphate binding activity. Involved in several processes, including endosome transport via multivesicular body sorting pathway; negative regulation of macromolecule metabolic process; and regulation of lysosomal membrane permeability. Located in several cellular components, including endosome; lysosomal membrane; and plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

1.80

LOEUF

GOF

Mechanism· predicted