Tyrosyl-DNA Phosphodiesterase 1

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OMIM Number

607198

NCBI Gene ID

55775

Uniprot ID

Q9NUW8

Length

89,797 bases

No. of Exons

20

No. of isoforms

2

Protein Name

Tyrosyl-DNA phosphodiesterase 1

Molecular Mass

68420 Da

Amino Acid Count

608

Genomic Location

chr14:89,954,968-90,044,764

Gene Map Locus
14q32.11

Description

The protein encoded by this gene is involved in repairing stalled topoisomerase I-DNA complexes by catalyzing the hydrolysis of the phosphodiester bond between the tyrosine residue of topoisomerase I and the 3-prime phosphate of DNA. This protein may also remove glycolate from single-stranded DNA containing 3-prime phosphoglycolate, suggesting a role in repair of free-radical mediated DNA double-strand breaks. This gene is a member of the phospholipase D family and contains two PLD phosphodiesterase domains. Mutations in this gene are associated with the disease spinocerebellar ataxia with axonal neuropathy (SCAN1). [From RefSeq]

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_018319.4:c.1459C>TSaudi ArabiaNC_000014.9:g.89993401C>TLikely PathogenicTDP1 Associated Male InfertilityNG_009164.1:g.42500C>T; NM_018319.4:c.1459C>T; NP_060789.2:p.Arg487Cys766476915
NM_018319.4:c.1478A>GSaudi ArabiaNC_000014.9:g.89993420A>GPathogenicPathogenicSpinocerebellar Ataxia, Autosomal Recessive, with Axonal NeuropathyNG_009164.1:g.42519A>G; NM_018319.4:c.1478A>G; NP_060789.2:p.His493Arg1194670033424
NM_018319.4:c.910C>TSaudi ArabiaNC_000014.9:g.89984541C>TLikely PathogenicLikely PathogenicTDP1 Associated Male InfertilityNG_009164.1:g.33640C>T; NM_018319.4:c.910C>T; NP_060789.2:p.Arg304Ter3701217731030645
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