UNC13D
Primary Info
Mutation
Mouse studies
DNA sequencing


mRNA IDs Primary Information
NM_199242.2 Gene Symbol UNC13D
Protein Name Unc-13 homolog d (c. elegans)
Alternate Names FHL3, HLH3, HPLH3, Munc13-4
Gene Locus 17q25.1

External links
IDR HPRD OMIM Entrez Gene NetPath Reactome PDB HGNC Ensembl Swiss-Prot RefDIC
126 10598 608897 201294 -
23147 ENSG00000092929 Q70J99 UNC13D

Disease name Characteristic / Associated features Category inheritance type
Familial hemophagocytic lymphohistiocytosis 3 Severe inflammation; high fever; irritability; generalized aches and pains; edema; viral disease; skin rash; lymphadenopathy; hepatosplenomegaly; pancytopenia; hypertriglyceridemia; hypofibrinogenemia; splenomegaly; cytopenia; hyperferritinemia; hemophagocytosis; central nervous system symptoms; decreased NK cell activity; decreased CTL activity; abnormality of coagulation; macrophage activation syndrome; defective anti-CD3-driven cytotoxic T-cell activity Diseases of Immune Dysregulation Autosomal recessive