PRPF31 Polyclonal Antibody, 20ul 3D Culture The protein encoded by HELZ2

The protein encoded by HELZ2 (helicase with zinc finger 2)is a nuclear transcriptional co-activator for peroxisome proliferator activated receptor alpha

This gene and FGF3

Defects in this gene are a cause of severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-positive (SCIDBNK)

GO annotations related to this gene include receptor binding and GABA receptor binding

Plays a role in acute neuroprotection against NMDA-induced excitotoxic neuronal death

PRPF31 Polyclonal Antibody, 20ul 3D Culture The protein encoded by HELZ2PRPF31 encodes a component of the spliceosome complex and is one of several retinitis pigmentosa causing genes. When the gene product is added to the spliceosome complex, activation occurs.