RecName: Full=Protein unc-13 homolog D; AltName: Full=Munc13-4

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Familial hemophagocytic lymphohistiocytosis type 3 presenting as neonatal cholestasis and splenomegaly. [Pediatr Allergy Immunol. 2022]
Familial hemophagocytic lymphohistiocytosis type 3 presenting as neonatal cholestasis and splenomegaly.
Bogaert D, De Bruyne R, Vanlander AV, Garabedian L, Louis Y, Haerynck F, Bordon V, De Moerloose B. Pediatr Allergy Immunol. 2022 Apr; 33(4):e13774.
Alternative UNC13D Promoter Encodes a Functional Munc13-4 Isoform Predominantly Expressed in Lymphocytes and Platelets. [Front Immunol. 2020]
Alternative UNC13D Promoter Encodes a Functional Munc13-4 Isoform Predominantly Expressed in Lymphocytes and Platelets.
Galgano D, Soheili T, Voss M, Torralba-Raga L, Tesi B, Cichocki F, Andre I, Rettig J, Cavazzana M, Bryceson Y. Front Immunol. 2020; 11:1154. Epub 2020 Jun 9.
Lentiviral Gene Therapy for Familial Hemophagocytic Lymphohistiocytosis Type 3, Caused by UNC13D Genetic Defects. [Hum Gene Ther. 2020]
Lentiviral Gene Therapy for Familial Hemophagocytic Lymphohistiocytosis Type 3, Caused by UNC13D Genetic Defects.
Takushi SE, Paik NY, Fedanov A, Prince C, Doering CB, Spencer HT, Chandrakasan S. Hum Gene Ther. 2020 Jun; 31(11-12):626-638.

RefSeq genomic sequence
See the genomic reference sequence for the UNC13D gene (NG_007266.1).
RefSeq protein
See the reference protein sequence for protein unc-13 homolog D (NP_954712.1).

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Related structures

Q70J99 [Domain Mapping of Disease Mut...]
Q70J99
Domain Mapping of Disease Mutations
MODBASE, Database of Comparative Protein Structure Models (Sali Lab/UCSF) [MODBASE, Database of Comparat...]
MODBASE, Database of Comparative Protein Structure Models (Sali Lab/UCSF)
Transcript/Protein Information [PANTHER Classification System]
Transcript/Protein Information
PANTHER Classification System
Reactome [Reactome]
Reactome
reagents [ExactAntigen/Labome]
reagents
ExactAntigen/Labome
reagent reviews [ExactAntigen/Labome]
reagent reviews
ExactAntigen/Labome

RecName: Full=Protein unc-13 homolog D; AltName: Full=Munc13-4
RecName: Full=Protein unc-13 homolog D; AltName: Full=Munc13-4
gi|51316668|sp|Q70J99.1|UN13D_HUMAN

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