DCLRE1C
Primary Info
Mutation
Mouse studies
DNA sequencing


mRNA IDs Primary Information
NM_001033855.1,NM_001033857.1,NM_001033858.1,NM_022487.2 Gene Symbol DCLRE1C
Protein Name Dna cross-link repair 1c (pso2 homolog, s. cerevisiae)
Alternate Names A-SCID, DCLREC1C, FLJ11360, FLJ36438, RS-SCID, SCIDA, SNM1C, ARTEMIS
Gene Locus 10p13

External links
IDR HPRD OMIM Entrez Gene NetPath Reactome PDB HGNC Ensembl Swiss-Prot RefDIC
5 05817 605988 64421 -
17642 ENSG00000152457 Q96SD1 DCLRE1C

Disease name Characteristic / Associated features Category inheritance type
Artemis deficiency; Omenn syndrome Failure to thrive; Otitis media; Oral ulcers; Absent tonsils; Recurrent upper respiratory tract infections; Pneumonia; Diarrhea; Genital ulcers; Reduced/absent CD3+ T cells; Very low lymphocyte proliferation in response to mitogens and alloantigens; Absent thymus; Small lymph nodes; Panhypogammaglobulinemia; defective VDJ recombination; radiation Sensitivity Combined T-cell and B-cell immunodeficiencies Autosomal recessive