gene 593 words KG: C8A 2026-03-24
kind:genesection:genesstate:published
Contents

C8A

๐Ÿงฌ Gene Info
Gene SymbolC8A
Chromosome1p31.3
FunctionThe C8 alpha chain functions as
Amino Acids579 aa
Ensembl IDENSG00000157216
GeneCardsC8A
Human Protein AtlasC8A
C8 DeficiencyIndividuals with C8 deficiency have increased susceptibility to Neisseria infections, particularly *Neisseria meningitidis*
Recurrent InfectionsLack of functional MAC leads to impaired bacterial killing
MAC-mediated InjurySublytic MAC formation can contribute to neuronal injury in various neurodegenerative conditions
Glial ActivationMAC deposition may activate glial cells and contribute to neuroinflammation
LiverPrimary site of synthesis (hepatocytes)
BrainLow baseline expression in astrocytes and microglia
Various tissuesWidely expressed at low levels
Diagnostic MarkersC8 levels can be measured for complement deficiency workup
Associated Diseasesneurodegeneration
DatabasesGeneCardsUniProtNCBI GeneHPASTRING

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