Identity
HGNC
LOCATION
11p11.2
LOCUSID
ALIAS
DEEAH,DENN,IG20,NEDDISH,RAB3GEP
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: 8567
MIM: 603584
HGNC: 6766
Ensembl: ENSG00000110514
Variants:
dbSNP: 8567
ClinVar: 8567
TCGA: ENSG00000110514
COSMIC: MADD
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37932938 | 2024 | Calloso-adreno-scrotal agenesis associated with biallelic MAPK-activating death domain protein (MADD) variant: Further phenotypic delineation of MADD deficiency. | 1 |
| 38459224 | 2024 | New insights into the clinical and molecular spectrum of the MADD-related neurodevelopmental disorder. | 0 |
| 38506245 | 2024 | MADD regulates natural killer cell degranulation through Rab27a activation. | 0 |
| 37932938 | 2024 | Calloso-adreno-scrotal agenesis associated with biallelic MAPK-activating death domain protein (MADD) variant: Further phenotypic delineation of MADD deficiency. | 1 |
| 38459224 | 2024 | New insights into the clinical and molecular spectrum of the MADD-related neurodevelopmental disorder. | 0 |
| 38506245 | 2024 | MADD regulates natural killer cell degranulation through Rab27a activation. | 0 |
| 33723354 | 2021 | Homozygous variant in MADD, encoding a Rab guanine nucleotide exchange factor, results in pleiotropic effects and a multisystemic disorder. | 5 |
| 34551092 | 2021 | GDP/GTP exchange factor MADD drives activation and recruitment of secretory Rab GTPases to Weibel-Palade bodies. | 13 |
| 33723354 | 2021 | Homozygous variant in MADD, encoding a Rab guanine nucleotide exchange factor, results in pleiotropic effects and a multisystemic disorder. | 5 |
| 34551092 | 2021 | GDP/GTP exchange factor MADD drives activation and recruitment of secretory Rab GTPases to Weibel-Palade bodies. | 13 |
| 32761064 | 2020 | Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder. | 15 |
| 32761064 | 2020 | Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder. | 15 |
| 30760700 | 2019 | Loss of MADD expression inhibits cellular growth and metastasis in anaplastic thyroid cancer. | 13 |
| 30947659 | 2019 | MADD Expression in Lung Adenocarcinoma and its Impact on Proliferation and Apoptosis of Lung Adenocarcinoma Cells. | 1 |
| 30760700 | 2019 | Loss of MADD expression inhibits cellular growth and metastasis in anaplastic thyroid cancer. | 13 |
Citation
Dessen P
MADD (MAP kinase activating death domain)
Atlas Genet Cytogenet Oncol Haematol. 2003-06-01
Online version: http://atlasgeneticsoncology.org/gene/41227/madd
