Alt. symbols: SCIDA | ARTEMIS | FLJ11360 | SNM1C | A-SCID

Approved name: DNA cross-link repair 1C
Alt. names: severe combined immunodeficiency, type a (Athabascan), DNA cross-link repair 1C (PSO2 homolog, S. cerevisiae) | PSO2 homolog (S. cerevisiae)

Location: 10p13: 14897359 - 14954432 (-)
Gene type: protein_coding, 38 transcripts.

Scores: LoFtool: 0.908000 | pLI: 0.00286936 | LOEUF: 0.711

HGNC: 17642

NCBI: 64421, RefSeq: NG_007276.1

Ensembl: ENSG00000152457.19

LRG_54 | Status: public

OMIM: 605988

Expression | ProteinAtlas

DCLRE1C gene encodes ARTEMIS, a nuclear protein that is involved in V(D)J recombination and DNA repair. This protein exhibits single-strand specific 5'-3' exonuclease activity in isolation and acquires endonucleolytic activity on 5' and 3' hairpins and overhangs when in a complex with PRKDC. The latter activity is required specifically for the resolution of closed hairpins prior to the formation of the coding joint during the non homologous end joining (NHEJ) repair. The NHEJ mechanism repairs the DNA double strand breaks (DSBs) created during the V(D)J recombination. The V(D)J recombination is the process by which exons encoding the antigen-binding domains of immunoglobulins and T-cell receptor proteins are assembled from individual V, (D), and J gene segments. ARTEMIS also functions in the regulation of the cell cycle in response to DNA damage.

Biallelic mutations in DCLRE1C have been shown to cause a type of severe combined immunodeficiency (SCID) known as the Athabascan type [MIM:602450], and Ommen snydrome. The clinical presentation of this patients may range from mere antibody deficiency to SCID, and it is characterized by recurrent respiratory infections, reduced B cell number and hypogammaglobulinemia, reduced/absent T cells, erythroderma, desquamation, alopecia, chronic diarrhea, genital ulcers, failure to thrive, lymphadenopath y, and hepatosplenomegaly. Pathogenic mutations predominantly include multi-exon and small deletions, splice-affecting mutations, and nonsense mutations (Moshous et al. 2001, Li et al. 2002, Moshous et al. 2003, Ege et al 2005); however, more recently missense mutations have also been reported (Ege et al. 2005, Volk et al. 2015, Felgentreff et al. 2015). In the latter study, Felgentreff and colleagues characterized the effect of 22 missense mutations on protein function. [Load More]