Polymerase, DNA, ETA

Alternative Names

  • POLH
  • RAD30, S. Cerevisiae, Homolog of, A
  • RAD30A
Back to search Result
OMIM Number

603968

NCBI Gene ID

5429

Uniprot ID

Q9Y253

Length

44,377 bases

No. of Exons

11

No. of isoforms

2

Protein Name

DNA polymerase eta

Molecular Mass

78413 Da

Amino Acid Count

713

Genomic Location

chr6:43,576,147-43,620,523

Gene Map Locus
6p21.1

Description

This gene encodes a member of the Y family of specialized DNA polymerases. It copies undamaged DNA with a lower fidelity than other DNA-directed polymerases. However, it accurately replicates UV-damaged DNA; when thymine dimers are present, this polymerase inserts the complementary nucleotides in the newly synthesized DNA, thereby bypassing the lesion and suppressing the mutagenic effect of UV-induced DNA damage. This polymerase is thought to be involved in hypermutation during immunoglobulin class switch recombination. Mutations in this gene result in XPV, a variant type of xeroderma pigmentosum. Several transcript variants encoding different isoforms have been found for this gene. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_006502.3:c.2074A>GLebanonchr6:43614489PathogenicUncertain SignificanceBreast CancerNG_009252.1:g.43349A>G; NM_006502.3:c.2074A>G; NP_006493.1:p.Thr692Ala199562456870901
© CAGS 2024. All rights reserved.