The -244 to -96 region of Pbsn promoter linked to androgen receptor binding sites 1 and 2 drives expression of a human PKN1 cDNA transcript variant 2 (NM_002741) with mutations of K644E, T774E, S916A, and N-terminal deletion of 1-568 amino acids. The protein expressed by this transgene is constitutively active. (J:256597)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count