DISEASES

Disease-gene associations mined from literature

Literature associating SEPN1 and Bethlem myopathy

SEPN1 [ENSP00000355141]

Selenoprotein N, 1; 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:  SEPN1,  SEPN1p,  hSEPN1,  D3DPJ3,  H9KV50 ...

Linkouts:  STRING  Pharos  UniProt  OMIM