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NPRL3 Rabbit Polyclonal Antibody, 100ul DNA Libraries Synthesis Mutations in PNPT1 have been

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NPRL3 Rabbit Polyclonal Antibody, 100ul DNA Libraries Synthesis Mutations in PNPT1 have beenThe function of the encoded protein is not known.

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Description

Mutations in PNPT1 have been associated with combined oxidative phosphorylation deficiency-13 and autosomal recessive nonsyndromic deafness-70

type II transmembrane glycoprotein that synthesizes and hydrolyzes cyclic adenosine 5'-diphosphate-ribose

also named activator 1

Two alternatively spliced transcript variants encoding distinct isoforms have been found for DFFA

Cell surface heparan sulfate proteoglycans are composed of a membrane-associated protein core substituted with a variable number of heparan sulfate chains

NPRL3 Rabbit Polyclonal Antibody, 100ul DNA Libraries Synthesis Mutations in PNPT1 have beenThe function of the encoded protein is not known.

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