NHEJ1
Primary Info
Mutation
Mouse studies
DNA sequencing


mRNA IDs Primary Information
NM_024782.1 Gene Symbol NHEJ1
Protein Name Nonhomologous end-joining factor 1
Alternate Names Cernunnos, FLJ12610, XLF
Gene Locus 2q35

External links
IDR HPRD OMIM Entrez Gene NetPath Reactome PDB HGNC Ensembl Swiss-Prot RefDIC
152 07784 611290 79840 NetPath_M79840 -
25737 ENSG00000187736 Q9H9Q4 NHEJ1

Disease name Characteristic / Associated features Category inheritance type
Cernunnos deficiency Microcephaly, intrauterine growth retardation; recurrent infections; increased sensitivity to ionizing radiation; hypogammaglobulinemia; severe T-lymphocytopenia; severe B-lymphocytopenia; mental retardation; proximally placed thumb; Aplasia/Hypoplasia of the middle phalanx of the 5th finger; nephroptosis; decreased T cells; decreased B-cell numbers Combined T-cell and B-cell immunodeficiencies Autosomal recessive