DISEASES

Disease-gene associations mined from literature

Literature associating MARCH8 and multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly

MARCH8 [ENSP00000411848]

Membrane-associated ring finger (C3HC4) 8, E3 ubiquitin protein ligase; E3 ubiquitin-protein ligase that mediates ubiquitination of CD86 and MHC class II proteins, such as HLA-DR alpha and beta, and promotes their subsequent endocytosis and sorting to lysosomes via multivesicular bodies. May also promote ubiquitination and endocytosis of TFRC and FAS; Membrane associated ring-CH-type fingers

Synonyms:  MARCH8,  MARCH8p,  hMARCH8,  A0A024R7U2,  H0Y7C6 ...

Linkouts:  STRING  Pharos  UniProt