Gene Symbol | C6 |
Entrez Gene ID | 729 |
Full Name | complement C6 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a component of the complement cascade. The encoded protein is part of the membrane attack complex that can be incorporated into the cell membrane and cause cell lysis. Mutations in this gene are associated with complement component-6 deficiency. Transcript variants encoding the same protein have been described.[provided by RefSeq, Nov 2012]. |
Disorder MIM: | |
Disorder Html: | C6 deficiency, 612446 (3); Combined C6/C7 deficiency (3) |