Function
(Microbial infection) Cleavage by Enterovirus 71 protease 3C results in increased translation of apoptosis protease activating factor APAF1, leading to apoptosis.
Biological Context
Subcellular Location: Nucleus
Disease Association: Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3 (IBMPFD3) : An autosomal dominant disease characterized by disabling muscle weakness clinically resembling to limb girdle muscular dystrophy, osteolytic bone lesions consistent with Paget disease, and premature frontotemporal dementia. Clinical features show incomplete penetrance. [The disease is caused by variants affecting the gene represented in this entry] | Amyotrophic lateral sclerosis 20 (ALS20) : A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. [The disease is caused by variants affecting the gene represented in this entry] | Myopathy, distal, 3 (MPD3) : An autosomal dominant skeletal muscle disorder characterized by adult onset of slowly progressive distal muscular weakness and atrophy affecting the upper and lower limbs, leading to difficulties using the hands and walking difficulties. Proximal muscle involvement may occur later in the disease, but patients typically remain ambulatory. Muscle biopsy shows myopathic changes with rimmed vacuoles. [The disease may be caused by variants affecting the gene represented in this entry]
Product Specifications
Recombinant Human Heterogeneous nuclear ribonucleoprotein A1 (HNRNPA1), partial is a recombinant protein from Homo sapiens (Human), expressed in E.coli, covering amino acids 2-354aa, with N-terminal 6xHis-tagged tag, molecular weight 40.9kDa, purity Greater than 90% as determined by SDS-PAGE.. Suitable for ELISA and Western Blot applications.
