DNA Cross-Link Repair Protein 1C

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OMIM Number

605988

NCBI Gene ID

64421

Uniprot ID

Q96SD1

Length

57,074 bases

No. of Exons

20

No. of isoforms

4

Protein Name

Protein artemis

Molecular Mass

78436 Da

Amino Acid Count

692

Genomic Location

chr10:14,897,358-14,954,431

Gene Map Locus
10p13

Description

This gene encodes a nuclear protein that is involved in V(D)J recombination and DNA repair. The encoded protein has single-strand-specific 5'-3' exonuclease activity; it also exhibits endonuclease activity on 5' and 3' overhangs and hairpins. The protein also functions in the regulation of the cell cycle in response to DNA damage. Mutations in this gene can cause Athabascan-type severe combined immunodeficiency (SCIDA) and Omenn syndrome. Alternative splicing results in multiple transcript variants. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001033855.3:c.247-3T>CLebanonNC_000010.11:g.14939872A>GLikely PathogenicNG_007276.1:g.19224T>C; NM_001033855.3:c.247-3T>C770768045
NM_001033855.3:c.265A>GLebanonNC_000010.11:g.14939851T>CUncertain SignificanceLikely PathogenicNG_007276.1:g.19245A>G; NM_001033855.3:c.265A>G; NP_001029027.1:p.Thr89Ala756366535968725
NM_001033855.3:c.545G>AUnited Arab EmiratesNC_000010.11:g.14934513C>TLikely PathogenicOmenn SyndromeNG_007276.1:g.24583G>A; NM_001033855.3:c.545G>A; NP_001029027.1:p.Cys182Tyr
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