Identity
HGNC
LOCATION
Xq28
LOCUSID
ALIAS
CG1,CXorf6,F18,HYSP2
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 10046
MIM: 300120
HGNC: 2568
Ensembl: ENSG00000013619
Variants:
dbSNP: 10046
ClinVar: 10046
TCGA: ENSG00000013619
COSMIC: MAMLD1
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36898841 | 2023 | Pathogenic variations in MAML2 and MAMLD1 contribute to congenital hypothyroidism due to dyshormonogenesis by regulating the Notch signalling pathway. | 0 |
| 36898841 | 2023 | Pathogenic variations in MAML2 and MAMLD1 contribute to congenital hypothyroidism due to dyshormonogenesis by regulating the Notch signalling pathway. | 0 |
| 34695834 | 2022 | MAMLD1 and Differences/Disorders of Sex Development: An Update. | 2 |
| 34695834 | 2022 | MAMLD1 and Differences/Disorders of Sex Development: An Update. | 2 |
| 34487543 | 2021 | [Advance in research on the role of MAMLD1 gene in disorders of sex development]. | 1 |
| 34517852 | 2021 | The genomic profiling and MAMLD1 expression in human and canines with Cushing's disease. | 1 |
| 34487543 | 2021 | [Advance in research on the role of MAMLD1 gene in disorders of sex development]. | 1 |
| 34517852 | 2021 | The genomic profiling and MAMLD1 expression in human and canines with Cushing's disease. | 1 |
| 30911995 | 2020 | Attenuation of MAMLD1 Expression Suppresses the Growth and Migratory Properties of Gonadotroph Pituitary Adenomas. | 2 |
| 31924698 | 2020 | Xq28 copy number gain causing moyamoya disease and a novel moyamoya syndrome. | 4 |
| 32690052 | 2020 | Clinical and molecular spectrum of 46,XY disorders of sex development that harbour MAMLD1 variations: case series and review of literature. | 8 |
| 33424767 | 2020 | Disorders of Sex Development in Individuals Harbouring MAMLD1 Variants: WES and Interactome Evidence of Oligogenic Inheritance. | 6 |
| 30911995 | 2020 | Attenuation of MAMLD1 Expression Suppresses the Growth and Migratory Properties of Gonadotroph Pituitary Adenomas. | 2 |
| 31924698 | 2020 | Xq28 copy number gain causing moyamoya disease and a novel moyamoya syndrome. | 4 |
| 32690052 | 2020 | Clinical and molecular spectrum of 46,XY disorders of sex development that harbour MAMLD1 variations: case series and review of literature. | 8 |
Citation
Dessen P
MAMLD1 (mastermind like domain containing 1)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/68774
