PPT2
Description
The PPT2 (palmitoyl-protein thioesterase 2) is a protein-coding gene located on chromosome 6.
PPT2, also known as S-thioesterase G14, is an enzyme encoded by the PPT2 gene in humans. It belongs to the palmitoyl protein thioesterase family and is a glycosylated lysosomal protein. While it exhibits palmitoyl-CoA hydrolase activity in vitro, it does not hydrolyze palmitate from cysteine residues in proteins.
PPT2 removes thioester-linked fatty acyl groups from various substrates, including S-palmitoyl-CoA. It exhibits the highest S-thioesterase activity towards palmitic and myristic acid, followed by other short- and long-chain acyl substrates. However, due to structural limitations, it cannot remove palmitate from peptides or proteins.
PPT2 is also known as C6orf8, G14, PPT-2.
Associated Diseases
- nonpapillary renal cell carcinoma
- type 2 diabetes mellitus
- acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome
- aceruloplasminemia
- hypouricemia, renal, 2
- hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2
- ataxia-pancytopenia syndrome
- combined PSAP deficiency
- renal-hepatic-pancreatic dysplasia 1
