Anti-Human MAMLD1 Antibody Pair

Product Description: Mastermind-like domain-containing protein 1 (MAMLD1) is a transcriptional co-activator involved in the regulation of DNA-dependent transcription and male gonad development. It exists in multiple isoforms approximately 80-106 kDa in size and plays a role in transactivating the HES3 promoter independently of canonical NOTCH signaling pathways. MAMLD1 is linked to the Notch-HLH transcription pathway and is a key factor in male sex differentiation. Structurally, it contains a mastermind-like domain typical of transcriptional co-regulators. Mutations in MAMLD1 are primarily associated with X-linked hypospadias type 2, a developmental disorder characterized by abnormal formation of the urethra in males. Research also implicates MAMLD1 mutations in other conditions such as myopathy and spermatic cord torsion, evidencing its role beyond gonadal development. Protein Function: Transactivates the HES3 promoter independently of NOTCH proteins. HES3 is a non-canonical NOTCH target gene which lacks binding sites for RBPJ [The Uniprot Consortium]