DISEASES

Disease-gene associations mined from literature

Literature associating THEM4 and Wolf-Hirschhorn syndrome

THEM4 [ENSP00000357804]

Carboxyl-terminal modulator protein; Has acyl-CoA thioesterase activity towards medium and long-chain (C14 to C18) fatty acyl-CoA substrates, and probably plays an role in mitochondrial fatty acid metabolism. Plays a role in the apoptotic process, possibly via its regulation of AKT1 activity. According to PubMed:11598301, inhibits AKT1 phosphorylation and activity. According to PubMed:17615157, enhances AKT1 activity by favoring its phosphorylation and translocation to plasma membrane.

Synonyms:  THEM4,  THEM4p,  hTHEM4,  E9PLJ7,  F6XC58 ...

Linkouts:  STRING  Pharos  UniProt  OMIM