This gene encodes a protein that 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 this gene are associated with familial hemophagocytic lymphohistiocytosis type 3, a genetically heterogeneous, rare autosomal recessive disorder. [provided by RefSeq, Jul 2008]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| UNC13D-20-RE | 20 (40 μL) | 200 μL |  |
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| UNC13D-20-OR | 20 (40 μL) | 200 μL |  |
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| UNC13D-20-GO | 20 (40 μL) | 200 μL |  |
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| UNC13D-20-GR | 20 (40 μL) | 200 μL |  |
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| UNC13D-20-AQ | 20 (40 μL) | 200 μL |  |
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This gene encodes a protein that 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 this gene are associated with familial hemophagocytic lymphohistiocytosis type 3, a genetically heterogeneous, rare autosomal recessive disorder. [provided by RefSeq, Jul 2008]
Gene Symbol : UNC13D
Gene Name : Unc-13 homolog D
Chromosome : CHR 17: 758,447,16-758,272,24
Locus : 17q25.1
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