OTUD4 Polyclonal Antibody, 20ul Human Genome Knockout Libraries Mutations in HABP2 are associated

Mutations in HABP2 are associated with nonmedullary thyroid cancer and susceptibility to venous thromboembolism

The interaction with TRAF2 inhibits TRAF2-mediated nuclear factor kappa-B| subunit 1 activation that is required for cell activation and protection against apoptosis

Specific mutations in DYSF have been shown to cause autosomal recessive limb girdle muscular dystrophy type 2B (LGMD2B) as well as Miyoshi myopathy

Caspase 2 may function in stress-induced cell death pathways

GO annotations related to this gene include calcium ion binding and identical protein binding

OTUD4 Polyclonal Antibody, 20ul Human Genome Knockout Libraries Mutations in HABP2 are associatedAlternatively spliced transcript variants have been found for this gene. The smaller protein isoform encoded by the shorter transcript variant is found only in HIV 1 infected cells.