ENTPD6

Chr 20

ectonucleoside triphosphate diphosphohydrolase 6

Also known as: CD39L2, IL-6SAG, IL6ST2, NTPDase-6, dJ738P15.3

NCBI Gene: 955 ENSG00000197586 UniProt: O75354

ENTPD6 encodes a nucleotidase that catalyzes the hydrolysis of nucleoside triphosphates and diphosphates, with strong preference for diphosphates like GDP, IDP, and UDP, and functions in glycosylation reactions in the Golgi apparatus. Mutations in ENTPD6 cause autosomal recessive spastic paraplegia with intellectual disability and hearing loss. The gene shows low constraint to loss-of-function variation, consistent with recessive inheritance.

ResearchSummary from RefSeq, UniProt

ENTPD6 is similar to E-type nucleotidases (NTPases). NTPases, such as CD39, mediate catabolism of extracellular nucleotides. ENTPD6 contains 4 apyrase-conserved regions which are characteristic of NTPases. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.82

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

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