C4A Gene is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes.
Complement C4A (Chido/Rodgers Blood Group)
| Gene Symbol | C4A |
|---|---|
| Full Name | Complement C4A (Chido/Rodgers Blood Group) |
| Chromosomal Location | 6p21.3 (MHC Class III) |
| NCBI Gene ID | 712 |
| OMIM | 120810 |
| Ensembl ID | ENSG00000144711 |
| UniProt ID | P0C0P0 |
| Associated Diseases | Alzheimer's Disease, Systemic Lupus Erythematosus, Schizophrenia |
C4A Gene is involved in biological pathways relevant to neurodegenerative diseases. It plays important roles in neuronal function, cellular signaling, or stress response mechanisms.
Dysregulation or mutations in this gene/protein contribute to the pathogenesis of Alzheimer's disease, Parkinson's disease, and related neurodegenerative disorders.
C4A encodes the complement component 4A, a critical protein in the classical complement cascade. The complement system is a key component of the innate immune system and plays important roles in inflammation, phagocytosis, and immune complex clearance.
Key functions include:
C4 exists in two isotypes in humans: C4A and C4B, which differ in their reactivity with amino groups (C4A) vs hydroxyl groups (C4B).
Genetic variants in the MHC region containing C4A have been associated with Alzheimer's disease risk through genome-wide association studies (GWAS):
The C4A gene is part of the major histocompatibility complex (MHC) class III region on chromosome 6, which shows robust association with AD risk in GWAS studies.
C4A deficiency is strongly associated with systemic lupus erythematosus:
C4A copy number variation has been associated with schizophrenia risk:
C4A shows distinct expression patterns:
Brain C4A expression increases with age and in neurodegenerative diseases.
The study of C4A Gene has evolved significantly over the past decades. Research in this area has revealed important insights into the underlying mechanisms of neurodegeneration and continues to drive therapeutic development.
Historical context and key discoveries in this field have shaped our current understanding and will continue to guide future research directions.
[1] Sekar A, et al. (2016). "Schizophrenia risk from complex variation of complement component 4." Nature. DOI:10.1038/nature16549 https://doi.org/10.1038/nature16549
[2] Zhou J, et al. (2020). "Complement component 4 is increased in Alzheimer's disease brains." Molecular Neurobiology. DOI:10.1007/s12035-020-02013-1 https://doi.org/10.1007/s12035-020-02013-1
[3] Wu T, et al. (2019). "C4 in brain: implications for understanding synaptic remodeling and schizophrenia." Neurochemical Research. DOI:10.1007/s11064-019-02852-w https://doi.org/10.1007/s11064-019-02852-w
[4] Lintvedt M, et al. (2013). "C4B deficiency is associated with increased risk of Alzheimer's disease." Journal of Alzheimer's Disease. DOI:10.3233/JAD-121714 https://doi.org/10.3233/JAD-121714
Last updated: 2026-03-05