LAMP1

Chr 13

lysosome associated membrane protein 1

Also known as: CD107a, LAMPA, LGP120

NCBI Gene: 3916 ENSG00000185896 UniProt: P11279

LAMP1 encodes a lysosomal membrane glycoprotein that regulates lysosomal pH by inhibiting the proton channel TMEM175, facilitates autophagy and cholesterol homeostasis, and plays a critical role in NK cell cytotoxicity through cytotoxic granule trafficking. Mutations cause autosomal recessive lysosomal storage disorders with neurodegeneration and immune dysfunction. The gene is highly constrained (pLI 0.87, LOEUF 0.40), indicating intolerance to loss-of-function variants.

GeneReviews ResearchSummary from RefSeq, UniProt

The protein encoded by this gene is a member of a family of membrane glycoproteins. This glycoprotein provides selectins with carbohydrate ligands. It may also play a role in tumor cell metastasis. [provided by RefSeq, Jul 2008]

GeneReviews ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

339

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.40

LOEUF

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Mechanism

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