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Gene Review:

Ppt2 - palmitoyl-protein thioesterase 2

Mus musculus

Synonyms: 0610007M19Rik, AA672937, Lysosomal thioesterase PPT2, PPT-2

Gupta, P. et al., Gupta, P. et al., Calero, G. et al.

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Disease relevance of Ppt2

In summary, PPT2 deficiency in mice manifests as a neurodegenerative disorder with visceral features [1].
Although PPT2 deficiency has not been described in humans, manifestations would be predicted to include neurodegeneration with bone marrow histiocytosis, visceromegaly, brown pancreas, and linkage to chromosome 6p21.3 in affected families [1].

High impact information on Ppt2

All PPT2-deficient mice displayed a neurodegenerative phenotype with spasticity and ataxia by 15 mo [1].
These studies provide a mouse model for infantile neuronal ceroid lipofuscinosis and further suggest that PPT2 serves a role in the brain that is not carried out by PPT1 [2].
PPT1 and PPT2 encode two lysosomal thioesterases that catalyze the hydrolysis of long chain fatty acyl CoAs [2].
A previous study had suggested that palmitoyl-CoA was the preferred substrate of PPT2 [3].
Furthermore, PPT2 did not hydrolyze palmitate from the several S-palmitoylated protein substrates [3].

References

Disruption of PPT2 in mice causes an unusual lysosomal storage disorder with neurovisceral features. Gupta, P., Soyombo, A.A., Shelton, J.M., Wilkofsky, I.G., Wisniewski, K.E., Richardson, J.A., Hofmann, S.L. Proc. Natl. Acad. Sci. U.S.A. (2003) [Pubmed]
Disruption of PPT1 or PPT2 causes neuronal ceroid lipofuscinosis in knockout mice. Gupta, P., Soyombo, A.A., Atashband, A., Wisniewski, K.E., Shelton, J.M., Richardson, J.A., Hammer, R.E., Hofmann, S.L. Proc. Natl. Acad. Sci. U.S.A. (2001) [Pubmed]
The crystal structure of palmitoyl protein thioesterase-2 (PPT2) reveals the basis for divergent substrate specificities of the two lysosomal thioesterases, PPT1 and PPT2. Calero, G., Gupta, P., Nonato, M.C., Tandel, S., Biehl, E.R., Hofmann, S.L., Clardy, J. J. Biol. Chem. (2003) [Pubmed]

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AgaP_AGAP009695	Anopheles gambiae str. PEST
PPT2	Bos taurus
PPT2	Canis lupus familiaris
ppt2	Danio rerio
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