SIR4 Polyclonal Antibody, 100ul Nucleic Acid Amplification Heterozygous loss-of-function mutations in KLF1

Heterozygous loss-of-function mutations in KLF1 result in the dominant In (Lu) blood phenotype

The protein associates with hamartin in a cytosolic complex

Polymorphisms in this gene have been linked to Alzheimer's disease in some populations

Proteins in this superfamily are usually found on or in cell membranes and act as receptors in immune response pathways

The gene product interacts with certain inflammatory response factors| and polymorphisms of this gene may be involved in the pathogenesis of Alzheimer's disease

SIR4 Polyclonal Antibody, 100ul Nucleic Acid Amplification Heterozygous loss-of-function mutations in KLF1This gene encodes a member of the sirtuin family of proteins, homologs to the yeast Sir2 protein. Members of the sirtuin family are characterized by a sirtuin core domain and grouped into four classes. The functions of human sirtuins have not yet been determined; however, yeast sirtuin proteins are known to regulate epigenetic gene silencing and suppress recombination of rDNA. Studies suggest that the human sirtuins may function as intracellular