DISEASES

Disease-gene associations mined from literature

Literature associating SELENON and congenital fiber-type disproportion

SELENON [ENSP00000355141]

Selenoprotein N; [Isoform 2]: Plays an important role in cell protection against oxidative stress and in the regulation of redox-related calcium homeostasis. Regulates the calcium level of the ER by protecting the calcium pump ATP2A2 against the oxidoreductase ERO1A-mediated oxidative damage. Within the ER, ERO1A activity increases the concentration of H(2)O(2), which attacks the luminal thiols in ATP2A2 and thus leads to cysteinyl sulfenic acid formation (-SOH) and SEPN1 reduces the SOH back to free thiol (-SH), thus restoring ATP2A2 activity . Acts as a modulator of ryanodine receptor (RyR) activity: protects RyR from oxidation due to increased oxidative stress, or directly controls the RyR redox state, regulating the RyR-mediated calcium mobilization required for normal muscle development and differentiation .

Synonyms:  SELENON,  A0A0D9SGI9,  H9KV50,  Q9NZV5,  H9KV50p ...

Linkouts:  STRING  Pharos  UniProt  OMIM