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FLASH GENE
Symbol NABP2 contributors: mct/pgu - updated : 15-04-2015
HGNC name nucleic acid binding protein 2
HGNC id 28412
ASSOCIATED DISORDERS
corresponding disease(s)
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional       loss of function
leading to increased radiosensitivity, defective checkpoint activation and enhanced genomic instability coupled with a diminished capacity for DNA repair
Susceptibility
Variant & Polymorphism
Candidate gene
Marker
Therapy target
ANIMAL & CELL MODELS
  • loss of Obfc2b in mice results in perinatal lethality characterized by growth delay and skeletal abnormalities
  • germline Ssb1(-/-) embryos die at birth from respiratory failure due to severe rib cage malformation and impaired alveolar development, coupled with additional skeletal defects