Disease-gene associations mined from literature

Literature associating PERM1 and Koolen de Vries syndrome

PERM1 [ENSP00000414022]

PGC-1 and ERR-induced regulator in muscle protein 1; Regulates the expression of selective PPARGC1A/B and ESRRA/B/G target genes with roles in glucose and lipid metabolism, energy transfer, contractile function, muscle mitochondrial biogenesis and oxidative capacity. Required for the efficient induction of MT-CO2, MT-CO3, COX4I1, TFB1M, TFB2M, POLRMT and SIRT3 by PPARGC1A. Positively regulates the PPARGC1A/ESRRG-induced expression of CKMT2, TNNI3 and SLC2A4 and negatively regulates the PPARGC1A/ESRRG-induced expression of PDK4.

Synonyms:  PERM1,  PERM1p,  hPERM1,  Q5SV97,  C1orf170 ...

Linkouts:  STRING  Pharos  UniProt