Entrez gene ID | | 714 |
Official gene symbol | | C1QC |
Full name | | complement component 1, q subcomponent, C chain |
Aliases | | ,C1Q-C,C1QG,FLJ27103, |
Gene summary | | This gene encodes a major constituent of the human complement subcomponent C1q. C1q associates with C1r and C1s in order to yield the first component of the serum complement system. A deficiency in C1q has been associated with lupus erythematosus and glomerulonephritis. C1q is composed of 18 polypeptide chains: six A-chains, six B-chains, and six C-chains. Each chain contains a collagen-like region located near the N-terminus, and a C-terminal globular region. The A-, B-, and C-chains are arranged in the order A-C-B on chromosome 1. This gene encodes the C-chain polypeptide of human complement subcomponent C1q. Alternatively spliced transcript variants that encode the same protein have been found for this gene. [provided by RefSeq] |
Location | | Chromosome: 1 Locus: 1p36.11 |
Gene position | | 22970118 - 22974603 Map Viewer |
Gene orientation | | plus |
Gene size | | 4486 bp |
Gene sequence |
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OMIM ID | | 120575 |
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