HRI Polyclonal Antibody, 100ul Peripheral Blood Separation Tube This gene and the gene

This gene and the gene encoding the colony stimulating factor 2 receptor alpha chain (CSF2RA) form a cytokine receptor gene cluster in a X-Y pseudoautosomal region on chromosomes X or Y

Mutations in this gene cause the disorder trimethylaminuria (TMAu) which is characterized by the accumulation and excretion of unmetabolized trimethylamine and a distinctive body odor

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The encoded protein functions as the receptor subunit that recognizes the mitochondrial targeting signal| or presequence| on protein cargo that is destined for the mitochondrial inner membrane and matrix

The activity of this receptor is mediated by G proteins which activate adenylyl cyclase

HRI Polyclonal Antibody, 100ul Peripheral Blood Separation Tube This gene and the geneEukaryotic translation initiation factor 2 alpha kinase 1encoded by EIF2AK1 acts at the level of translation initiation to downregulate protein synthesis in response to stress. The encoded protein is a kinase that can be inactivated by hemin. Two transcript variants encoding different isoforms have been found for this gene.