RecName: Full=MAP kinase-activating death domain protein; AltName: Ful - Protein

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Calloso-adreno-scrotal agenesis associated with biallelic MAPK-activating death domain protein (MADD) variant: Further phenotypic delineation of MADD deficiency. [Am J Med Genet A. 2024]
Calloso-adreno-scrotal agenesis associated with biallelic MAPK-activating death domain protein (MADD) variant: Further phenotypic delineation of MADD deficiency.
Darouich S, Darouich S. Am J Med Genet A. 2024 Mar; 194(3):e63463. Epub 2023 Nov 6.
Homozygous variant in MADD, encoding a Rab guanine nucleotide exchange factor, results in pleiotropic effects and a multisystemic disorder. [Eur J Hum Genet. 2021]
Homozygous variant in MADD, encoding a Rab guanine nucleotide exchange factor, results in pleiotropic effects and a multisystemic disorder.
Abu-Libdeh B, Mor-Shaked H, Atawna AA, Gillis D, Halstuk O, Shaul-Lotan N, Slae M, Sultan M, Meiner V, Elpeleg O, et al. Eur J Hum Genet. 2021 Jun; 29(6):977-987. Epub 2021 Mar 15.
Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder. [Brain. 2020]
Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder.
Schneeberger PE, Kortüm F, Korenke GC, Alawi M, Santer R, Woidy M, Buhas D, Fox S, Juusola J, Alfadhel M, et al. Brain. 2020 Aug 1; 143(8):2437-2453.

RefSeq genomic sequence
See the genomic reference sequence for the MADD gene (NG_029462.2).
RefSeq protein isoforms
See 97 reference sequence protein isoforms for the MADD gene.

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Q8WXG6 [Domain Mapping of Disease Mut...]
Q8WXG6
Domain Mapping of Disease Mutations
Transcript/Protein Information [PANTHER Classification System]
Transcript/Protein Information
PANTHER Classification System
Reactome [Reactome]
Reactome
reagent reviews [ExactAntigen/Labome]
reagent reviews
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reagents [ExactAntigen/Labome]
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RecName: Full=MAP kinase-activating death domain protein; AltName: Full=Differen...
RecName: Full=MAP kinase-activating death domain protein; AltName: Full=Differentially expressed in normal and neoplastic cells; AltName: Full=Insulinoma glucagonoma clone 20; AltName: Full=Rab3 GDP/GTP exchange factor; Short=RabGEF; AltName: Full=Rab3 GDP/GTP exchange protein; Short=Rab3GEP
gi|126215742|sp|Q8WXG6.2|MADD_HUMAN

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