Protein unc-13 homolog D, also known as munc13-4, is a protein that in humans is encoded by the UNC13D gene. [5]
Protein unc-13 homolog D, also known as munc13-4, is a protein that in humans is encoded by the UNC13D gene. [5]
Munc13-4 is a member of the UNC13 family, containing similar domain structure as other family members but lacking an N-terminal phorbol ester-binding C1 domain present in other Munc13 proteins. The protein appears to play a role in vesicle maturation during exocytosis and is involved in regulation of cytolytic granules secretion.
Mutations in the UNC13D gene are associated with hemophagocytic lymphohistiocytosis type 3. [5]
Perforin-1 is a protein that in humans is encoded by the PRF1 gene and the Prf1 gene in mice.
Complement component 6 is a protein that in humans is encoded by the C6 gene.
In hematology, hemophagocytic lymphohistiocytosis (HLH), also known as haemophagocytic lymphohistiocytosis, and hemophagocytic or haemophagocytic syndrome, is an uncommon hematologic disorder seen more often in children than in adults. It is a life-threatening disease of severe hyperinflammation caused by uncontrolled proliferation of benign lymphocytes and macrophages that secrete high amounts of inflammatory cytokines. It is classified as one of the cytokine storm syndromes. There are inherited and non-inherited (acquired) causes of HLH.
Chemokine ligand 8 (CCL8), also known as monocyte chemoattractant protein 2 (MCP2), is a protein that in humans is encoded by the CCL8 gene.
Kv7.3 (KvLQT3) is a potassium channel protein coded for by the gene KCNQ3.
Syntaxin 11, also known as STX11, is a human gene that is a member of the t-SNARE family.
Probable phospholipid-transporting ATPase IC is an enzyme that in humans is encoded by the ATP8B1 gene. This protein is associated with progressive familial intrahepatic cholestasis type 1 as well as benign recurrent intrahepatic cholestasis.
TIA1 or Tia1 cytotoxic granule-associated rna binding protein is a 3'UTR mRNA binding protein that can bind the 5'TOP sequence of 5'TOP mRNAs. It is associated with programmed cell death (apoptosis) and regulates alternative splicing of the gene encoding the Fas receptor, an apoptosis-promoting protein. Under stress conditions, TIA1 localizes to cellular RNA-protein conglomerations called stress granules. It is encoded by the TIA1 gene.
Glycoprotein IX (platelet) (GP9) also known as CD42a (Cluster of Differentiation 42a), is a human gene.
Progressive ankylosis protein homolog is a protein that in humans is encoded by the ANKH gene.
Cysteine-rich secretory protein 3 is a cysteine-rich secretory protein that in humans is encoded by the CRISP3 gene.
Cartilage intermediate layer protein 1 is a protein that in humans is encoded by the CILP gene.
Ficolin-1, and also commonly termed M-ficolin is a protein that in humans is encoded by the FCN1 gene.
Interleukin 21 receptor is a type I cytokine receptor. IL21R is its human gene.
Solute carrier family 22, member 12, also known as SLC22A12 and URAT1, is a protein which in humans is encoded by the SLC22A12 gene.
C-type lectin domain family 4 member A is a protein that in humans is encoded by the CLEC4A gene.
Ras-related protein Rab-27A is a protein that in humans is encoded by the RAB27A gene.
X-linked lymphoproliferative disease is a lymphoproliferative disorder, usually caused by SH2DIA gene mutations in males. XLP-positive individuals experience immune system deficiencies that render them unable to effectively respond to the Epstein-Barr virus (EBV), a common virus in humans that typically induces mild symptoms or infectious mononucleosis (IM) in patients. There are two currently known variations of the disorder, known as XLP1 and XLP2. XLP1 is estimated to occur in approximately one in every million males, while XLP2 is rarer, estimated to occur in one of every five million males. Due to therapies such as chemotherapy and stem cell transplants, the survival rate of XLP1 has increased dramatically since its discovery in the 1970s.
Methylmalonic aciduria type A protein, mitochondrial also known as MMAA is a protein that in humans is encoded by the MMAA gene.
Sal-like protein 3, also known as zinc finger protein SALL3, is a protein that in humans in encoded by the SALL3 gene.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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