AKAP4, A-kinase anchoring protein 4, 8852

N. diseases: 29; N. variants: 0
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0403823
Disease: Asthenozoospermia
Asthenozoospermia
0.020 AlteredExpression disease BEFREE AKAP4, a protein regulating PKA activity, coimmunoprecipated with RNASET2 and they colocalized with one another in the sperm tail, which might contribute to reduced sperm motility. 29581387 2018
CUI: C0403823
Disease: Asthenozoospermia
Asthenozoospermia
0.020 GeneticVariation disease BEFREE We identified 10 heterozygous asthenozoospermia-specific mutations in ADYC10 (n = 2), AKAP4 (n =1), CATSPER1 (n = 1), CATSPER2 (n = 1), CATSPER3 (n = 1), CATSPER4 (n = 3), and PLA2G6 (n = 1). 21255775 2011