DISEASES

Disease-gene associations mined from literature

Literature associating MSRB2 and Coffin-Siris syndrome 1

MSRB2 [ENSP00000365693]

Methionine-R-sulfoxide reductase B2, mitochondrial; Methionine-sulfoxide reductase that specifically reduces methionine (R)-sulfoxide back to methionine. While in many cases, methionine oxidation is the result of random oxidation following oxidative stress, methionine oxidation is also a post- translational modification that takes place on specific residue. Upon oxidative stress, may play a role in the preservation of mitochondrial integrity by decreasing the intracellular reactive oxygen species build-up through its scavenging role, hence contributing to cell survival and protein maintenance.

Synonyms:  MSRB2,  MSRB2p,  hMSRB2,  Q9Y3D2,  CBS-1 ...

Linkouts:  STRING  Pharos  UniProt  OMIM