MAMLD1 Gene Summary [Human]
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]
Details
| Type | Processed Transcript |
| Official Symbol | MAMLD1 |
| Official Name | mastermind like domain containing 1 [Source:HGNC Symbol;Acc:HGNC:2568] |
| Ensembl ID | ENSG00000013619 |
| Bio databases IDs | |
| Aliases | mastermind like domain containing 1 |
| Synonyms | CG1, CXorf6, F18, G630014P10Rik, HYSP2, mastermind-like domain containing 1 |
| Species | Human, Homo sapiens |
| Orthologies |
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- refractive error
- X-linked hypospadias 2
- hypospadia
- 46 XY ovotesticular disorder of sex development
- papillary thyroid carcinoma
- papillary thyroid cancer
role in cell
- number
- transactivation in
- nonsense-mediated mRNA decay in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- centrosome
- Golgi Apparatus
- nucleoplasm
- nuclear bodies
- perikaryon
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human MAMLD1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- male gonad development
- regulation of transcription from RNA polymerase II promoter
Cellular Component
Where in the cell the gene product is active
- centrosome
- nuclear body
- Golgi apparatus
- nucleoplasm