The antibody detects endogenous levels of total AKAP1 protein.
This gene encodes an enzyme which reversibly catalyzes the phosphorolysis of purine nucleosides. The enzyme is trimeric, containing three identical subunits. Mutations which result in nucleoside phosphorylase deficiency result in defective T-cell (cell-mediated) immunity but can also affect B-cell immunity and antibody responses. Neurologic disorders may also be apparent in patients with immune defects. A known polymorphism at aa position 51 that does not affect enzyme activity has been described. A pseudogene has been identified on chromosome 2.
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Protein Aliases: A kinase (PRKA) anchor protein 1; A kinase anchor protein 1; A-kinase anchor protein 1, mitochondrial; A-kinase anchor protein 149 kDa; AKAP 149; AKAP149; D-AKAP-1; Dual specificity A-kinase-anchoring protein 1; dual-specificity A-kinase anchoring protein 1; mitochondrial precursor; PRKA1; protein kinase A anchoring protein 1; Protein kinase A-anchoring protein 1; protein kinase A1; protein phosphatase 1, regulatory subunit 43; S-AKAP84; Spermatid A-kinase anchor protein 84; testicular secretory protein Li 5; tudor domain containing 17
Gene Aliases: AKAP; AKAP1; AKAP121; AKAP149; AKAP84; D-AKAP1; PPP1R43; PRKA1; SAKAP84; TDRD17
UniProt ID: (Human) Q92667
Entrez Gene ID: (Human) 8165