NBN (NM_002485) - nibrin
Nibrin Isoform 1
Legend
Protein
Kinases
Sites
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Interactions
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PTM Interaction Network Visualisation
Protein summary
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
- 975
- PTM sites
- 64
- CDS
- 90,947,809 - 90,996,789
- Transcription
- 90,945,563 - 90,996,899
Usage summary
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PTM site
Kinases group
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Kinase, PTM site or protein
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