NT5M

Chr 17

5',3'-nucleotidase, mitochondrial

Also known as: dNT-2, dNT2, mdN

NCBI Gene: 56953 ENSG00000205309 UniProt: Q9NPB1

The protein is a mitochondrial matrix 5' nucleotidase that dephosphorylates uracil and thymine deoxyribonucleotides to protect mitochondrial DNA replication from excess dTTP. Mutations cause autosomal recessive spastic paraplegia-45, which presents with progressive spasticity and weakness of the lower extremities. The gene shows low constraint against loss-of-function variants, consistent with recessive inheritance where heterozygous carriers are typically unaffected.

ResearchSummary from RefSeq, UniProt

This gene encodes a 5' nucleotidase that localizes to the mitochondrial matrix. This enzyme dephosphorylates the 5'- and 2'(3')-phosphates of uracil and thymine deoxyribonucleotides. The gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.85

LOEUF

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Mechanism

Some data sources returned errors (1)