NBN (NM_002485) - nibrin

Nibrin Isoform 1

Mutations Visualisation

Protein summary

This is preferred isoform of NBN protein. View all 2 isoforms
NBN: nibrin isoform 1
Description:

Mutations in this gene are associated with Nijmegen breakage syndrome, an autosomal recessive chromosomal instability syndrome characterized by microcephaly, growth retardation, immunodeficiency, and cancer predisposition. The encoded protein is a member of the MRE11/RAD50 double-strand break repair complex which consists of 5 proteins. This gene product is thought to be involved in DNA double-strand break repair and DNA damage-induced checkpoint activation. [provided by RefSeq, Jul 2008].

Strand
-
Chromosome
8
Protein
754 residues
All mutations
297
PTM sites
52
CDS
90,947,809 - 90,996,789
Transcription
90,945,563 - 90,996,899
50.0% of sequence is predicted to be disordered

External references

Mappings retrieved from NCBI & Uniprot.
RefSeq
Entrez
gene: 4683
Uniprot
Ensembl