MARCHF8

Chr 10

membrane associated ring-CH-type finger 8

Also known as: CMIR, MARCH-VIII, MARCH8, MIR, RNF178, c-MIR

NCBI Gene: 220972 ENSG00000165406 UniProt: Q5T0T0 OMIM: 613335

MARCHF8 encodes a membrane-bound E3 ubiquitin ligase that regulates immune responses by ubiquitinating and targeting various proteins including viral envelope proteins, MHC class II molecules, and immune receptors for degradation. Mutations cause autosomal recessive primary immunodeficiency with recurrent infections, growth retardation, and developmental delays typically presenting in early childhood. The gene shows no intolerance to loss-of-function variants based on population genetics data.

OMIM ResearchSummary from RefSeq, UniProt

MARCH8 is a member of the MARCH family of membrane-bound E3 ubiquitin ligases (EC 6.3.2.19). MARCH enzymes add ubiquitin (see MIM 191339) to target lysines in substrate proteins, thereby signaling their vesicular transport between membrane compartments. MARCH8 induces the internalization of several membrane glycoproteins (Goto et al., 2003 [PubMed 12582153]; Bartee et al., 2004 [PubMed 14722266]).[supplied by OMIM, Apr 2010]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.31

LOEUF

Multiple*

Mechanism· predicted