Entity Details

Primary name NHEJ1
Entity type gene
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Details

PrimaryID79840
RefseqGeneNG_007880
SymbolNHEJ1
Namenon-homologous end joining factor 1
Chromosome2
Location2q35
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2001-03-12
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsNHEJ1_HUMAN

GO terms

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GOName
GO:0001650 fibrillar center
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0006303 double-strand break repair via nonhomologous end joining
GO:0007417 central nervous system development
GO:0010212 response to ionizing radiation
GO:0030183 B cell differentiation
GO:0030217 T cell differentiation
GO:0032807 DNA ligase IV complex
GO:0045027 DNA end binding
GO:0051351 positive regulation of ligase activity
GO:0070419 nonhomologous end joining complex

Diseases

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Disease IDSourceNameDescription
611291 OMIMSevere combined immunodeficiency due to NHEJ1 deficiency (NHEJ1-SCID)SCID refers to a genetically and clinically heterogeneous group of rare congenital disorders characterized by impairment of both humoral and cell-mediated immunity, leukopenia and low or absent antibody levels. Patients with SCID present in infancy with recurrent, persistent infections by opportunistic organisms. The common characteristic of all types of SCID is absence of T-cell-mediated cellular immunity due to a defect in T-cell development. NHEJ1-SCID is characterized by a profound T- and B-lymphocytopenia associated with increased cellular sensitivity to ionizing radiation, microcephaly and growth retardation. Some patients may manifest SCID with sensitivity to ionizing radiation without microcephaly and mild growth retardation, probably due to hypomorphic NHEJ1 mutations. The disease is caused by variants affecting the gene represented in this entry.