Disease-gene associations mined from literature

Literature associating C8A and autosomal recessive hypercholesterolemia

C8A [ENSP00000354458]

Complement component 8, alpha polypeptide; Constituent of the membrane attack complex (MAC) that plays a key role in the innate and adaptive immune response by forming pores in the plasma membrane of target cells. C8A inserts into the target membrane, but does not form pores by itself; Belongs to the complement C6/C7/C8/C9 family.

Synonyms:  C8A,  C8Ap,  hC8A,  P07357,  P07357p ...

Linkouts:  STRING  Pharos  UniProt  OMIM