Disease-gene associations mined from literature

Literature associating ACOT1 and Pitt-Hopkins-like syndrome 2

ACOT1 [ENSP00000311224]

Inducible cytosolic acyl-coenzyme A thioester hydrolase; Acyl-CoA thioesterases are a group of enzymes that catalyze the hydrolysis of acyl-CoAs to the free fatty acid and coenzyme A (CoASH), providing the potential to regulate intracellular levels of acyl-CoAs, free fatty acids and CoASH. Active towards fatty acyl-CoA with chain-lengths of C12-C16 (By similarity).

Synonyms:  ACOT1,  ACOT1p,  hACOT1,  E9KL42,  G3V4F2 ...

Linkouts:  STRING  Pharos  UniProt  OMIM