| Entrez Gene ID | 731 |
|---|---|
| Official Gene Symbol | C8A (GeneCards) |
| Full name | complement C8 alpha chain |
| Location | 1p32.2 |
| Other ids | Vega : OTTHUMG00000008306 MIM : 120950 HGNC : HGNC:1352 Ensembl : ENSG00000157131 |
| Other names | None |
| Summary | C8 is a component of the complement system and contains three polypeptides, alpha, beta and gamma. This gene encodes the alpha subunit of C8. C8 participates in the formation of the membrane attack complex (MAC). The MAC assembles on bacterial membranes to form a pore, permitting disruption of bacterial membrane organization. Mutations in this gene cause complement C8 alpha-gamma deficiency. [provided by RefSeq, Nov 2008] |
Found 5 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 1193 | 731 | C8A | 1 | 57347157 | 57347157 | Autism Spectrum Disorders | NextSeq500 v2 |
| 2792 | 731 | C8A | 1 | 57334161 | 57334161 | Xeroderma Pigmentosum | NextSeq500 v2 HiSeq X Ten |
| 24614 | 731 | C8A | 1 | 57373421 | 57373421 | Asymptomatic | NextSeq500 v2 HiSeq X Ten Single cell Sequencing Cell cloning |
| 29220 | 731 | C8A | 1 | 57347157 | 57347157 | Autism Spectrum Disorders | NextSeq500 v2 HiSeq X Ten Single cell Sequencing Cell cloning PASM |
| 29711 | 731 | C8A | 1 | 57347157 | 57347157 | Autism Spectrum Disorders | NextSeq500 v2 HiSeq X Ten Single cell Sequencing Cell cloning PASM NextSeq500 |