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.
A synthesized peptide derived from human NBPF1/9/10/12/14/15/16/20, corresponding to a region within C-terminal amino acids.
A synthesized peptide derived from human NBPF3, corresponding to a region within the internal amino acids.
A synthesized peptide derived from human NBPF4, corresponding to a region within C-terminal amino acids.
A synthesized peptide derived from human NBPF5, corresponding to a region within C-terminal amino acids.
A synthesized peptide derived from human NBPF6, corresponding to a region within C-terminal amino acids.
A synthesized peptide derived from human NBPF7, corresponding to a region within C-terminal amino acids.
A synthesized peptide derived from human NBR1, corresponding to a region within the internal amino acids.
The protein encoded by this gene was originally identified as an ovarian tumor antigen monitored in ovarian cancer. The encoded protein contains a B-box/coiled-coil motif, which is present in many genes with transformation potential. It functions as a specific autophagy receptor for the selective autophagic degradation of peroxisomes by forming intracellular inclusions with ubiquitylated autophagic substrates. This gene is located on a region of chromosome 17q21.1 that is in close proximity to the BRCA1 tumor suppressor gene. Alternative splicing of this gene results in multiple transcript variants.NBR1 (NBR1, Autophagy Cargo Receptor) is a Protein Coding gene. Diseases associated with NBR1 include Inclusion Body Myositis and Synucleinopathy. Among its related pathways are Mitophagy - animal. GO annotations related to this gene include ubiquitin binding and mitogen-activated protein kinase binding.
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