Mastermind-like domain-containing protein 1 (MAMLD1)

Mastermind-like domain-containing protein 1 (MAMLD1) is a nuclear protein encoded by the MAMLD1 gene on the X chromosome, predominantly expressed in fetal Sertoli and Leydig cells during sexual differentiation[2][5][7]. Functionally, MAMLD1 acts as a transcriptional co-activator, notably activating the HES3 promoter independently of canonical Notch signaling[4][7]. Mutations in MAMLD1 are associated with a spectrum of 46,XY disorders of sex development and X-linked hypospadias—affecting androgen production and testicular descent in development[2][5][7]. Its precise molecular mechanisms and disease associations, although strongly implicated in sex development, may involve oligogenic inheritance, and the full spectrum of its biological function is still under investigation[5][8]. There are currently no known drugs specifically targeting MAMLD1, and it is not recognized as a classical therapeutic target in pharmacology or drug discovery[7].

Other names

CXorf6CG1F18HYSP2Protein CG1