Aliases for MAMLD1 Gene
External Ids for MAMLD1 Gene
Previous HGNC Symbols for MAMLD1 Gene
Previous GeneCards Identifiers for MAMLD1 Gene
This gene 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. [provided by RefSeq, Apr 2010]
GeneCards Summary for MAMLD1 Gene
MAMLD1 (Mastermind Like Domain Containing 1) is a Protein Coding gene. Diseases associated with MAMLD1 include Hypospadias 2, X-Linked and Posterior Hypospadias. Among its related pathways are NOTCH2 Activation and Transmission of Signal to the Nucleus and Pre-NOTCH Expression and Processing.
UniProtKB/Swiss-Prot Summary for MAMLD1 Gene
Transactivates the HES3 promoter independently of NOTCH proteins. HES3 is a non-canonical NOTCH target gene which lacks binding sites for RBPJ.