Mastermind Like Domain Containing Protein 1 (MAMLD1)

MAMLD1 encodes a mastermind-like domain containing protein. This protein may function as a transcriptional co-activator. Mutations in this gene are the cause of X-linked hypospadias type 2. Alternate splicing results in multiple transcript variants.A transcript of 4.6 kb was detected in a range of tissues, and additional alternative forms of 3.8 and 2.6 kb were present in placenta and pancreas, respectively.

Sequence analysis of a 4.6-kb cDNA contig revealed 2 overlapping open reading frames (ORFs) that encoded putative proteins of 701 and 424 amino acids, respectively. Two alternative splice transcripts affecting the large ORF were identified that, together with the Northern blot results, suggested that distinct proteins are derived from the gene.