ENTPD4

Chr 8

ectonucleoside triphosphate diphosphohydrolase 4

Also known as: LALP70, LAP70, LYSAL1, NTPDase-4, UDPase

NCBI Gene: 9583 ENSG00000197217 UniProt: Q9Y227

The protein functions as an endo-apyrase that catalyzes the hydrolysis of nucleoside triphosphates and diphosphates in a calcium- or magnesium-dependent manner, with preference for pyrimidines like UTP and TTP, and may be involved in nucleotide salvage from lysosomes. Mutations cause spastic paraplegia 35, an autosomal recessive hereditary spastic paraplegia presenting with progressive lower limb spasticity. The gene shows no constraint against loss-of-function variants, consistent with recessive inheritance where heterozygous carriers are typically unaffected.

ResearchSummary from RefSeq, UniProt

This gene encodes a member of the apyrase protein family. Apyrases are enzymes that catalyze the hydrolysis of nucleotide diphosphates and triphosphates in a calcium or magnesium-dependent manner. The encoded protein is an endo-apyrase and may play a role in salvaging nucleotides from lysosomes. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and these isoforms may differ in divalent cation dependence and substrate specificity. [provided by RefSeq, Sep 2011]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

1.02

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429