MAMLD1
Description
The MAMLD1 (mastermind like domain containing 1) is a protein-coding gene located on chromosome X.
MAMLD1 activates the HES3 promoter without the involvement of NOTCH proteins. HES3 is a unique NOTCH target gene that doesn't have binding sites for RBPJ.
MAMLD1 is also known as CG1, CXorf6, F18, HYSP2.
Associated Diseases
- Non-syndromic posterior hypospadias
- X-linked myotubular myopathy-abnormal genitalia syndrome
- Hypospadias 2, X-linked
