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PPT1

PPT1

Protein-coding gene in the species Homo sapiens

palmitoyl-protein hydrolase 1, is an enzyme that in humans is encoded by the PPT1 gene. PPT-1 a member of the palmitoyl protein thioesterase family. PPT-1

PPT1

Neuronal ceroid lipofuscinosis

Medical condition

of a lysosomal enzyme called palmitoyl protein thioesterase 1 (PPT1). The wild-type PPT1 is a 306-amino acid polypeptide that is typically targeted for

Neuronal ceroid lipofuscinosis

Neuronal_ceroid_lipofuscinosis

Batten disease

Fatal childhood genetic condition

year sooner. Infantile neuronal ceroid (INCL): CLN1 encodes for the protein PPT1 which functions as a lysosomal enzyme. Late infantile NCL (LINCL): CLN2 encodes

Batten disease

Batten_disease

Lysosomal storage disease

Metabolic disorders affecting a cell's lysosomes

ceroid lipofuscinoses Type 1 Santavuori–Haltia disease / infantile NCL (CLN1 PPT1) Type 2 Jansky–Bielschowsky disease / late infantile NCL (CLN2/LINCL TPP1)

Lysosomal storage disease

Lysosomal_storage_disease

Kufs disease

Medical condition

specifically, the nerve cell.[citation needed] Mutations to the CLN6 and PPT1 genes result in Kufs disease Type A. CLN6 produces proteins that facilitate

Kufs disease

Kufs_disease

Topics referred to by the same term

protein thioesterase, enzymes that remove thioester-linked fatty acyl groups PPT1, a member of the palmitoyl protein thioesterase family PPT2, a member of

PPT

Palmitoyl(protein) hydrolase

Class of enzymes

palmitoyl-protein thioesterase 1 Identifiers Symbol PPT1 Alt. symbols PPT NCBI gene 5538 HGNC 9325 OMIM 600722 RefSeq NM_000310 UniProt P50897 Other data

Palmitoyl(protein) hydrolase

Palmitoyl(protein)_hydrolase

PPT2

Protein-coding gene in the species Homo sapiens

PMID 10051407. Gupta P, Soyombo AA, Atashband A, et al. (2001). "Disruption of PPT1 or PPT2 causes neuronal ceroid lipofuscinosis in knockout mice". Proc. Natl

PPT2

Thioesterase

Class of enzymes which split thiol esters into an acid and alcohol

ACOT4, ACOT6, ACOT7, ACOT8, ACOT9, ACOT11 (STARD14), ACOT12 (STARD15), OLAH, PPT1, PPT2, THEM2 (ACOT13), THEM4, THEM4P1, THEM5 Steensels S, Ersoy B. Fatty

Thioesterase

Lucanthone

Chemical compound

Sharma A, Bases R, Seeliger MA, et al. (March 2024). "Lucanthone, a Potential PPT1 Inhibitor, Perturbs Stemness, Reduces Tumor Microtube Formation, and Slows

Lucanthone

De Bow's Review

Widely -circulated 19th-century magazine

Industrial Progress, Google Books, 1847, webpage: Books-Google-Debow's-PPT1. Fuhlhage, Michael. "The Mexican Image through Southern Eyes: De Bow's Review

De Bow's Review

De_Bow's_Review

Jansky–Bielschowsky disease

Medical condition

in the TPP1 gene; however, mutations in the CLN5, CLN6, CLN8, MFSD8, and PPT1 genes also account for a small number of cases. These mutations result in

Jansky–Bielschowsky disease

Jansky–Bielschowsky_disease

Acyl-protein thioesterase

Enzymes that cleave off lipid modifications on proteins

thioesterases reported, including the ABHD17 enzyme family. In the lysosome, PPT1 of the palmitoyl protein thioesterase family has similar enzymatic activity

Acyl-protein thioesterase

Acyl-protein_thioesterase

List of human protein-coding genes 6

O75170 12718 PPP6R3 HGNC:1173; Q5H9R7 12719 PPRC1 HGNC:30025; Q5VV67 12720 PPT1 HGNC:9325; P50897 12721 PPT2 HGNC:9326; Q9UMR5 12722 PPTC7 HGNC:30695; Q8NI37

List of human protein-coding genes 6

List_of_human_protein-coding_genes_6

List of OMIM disorder codes

variant; 610003; CLN8 Ceroid lipofuscinosis, neuronal 1, infantile; 256730; PPT1 Ceroid-lipofuscinosis, neuronal 2, classic late infantile; 204500; TPP1 Ceroid

List of OMIM disorder codes

List_of_OMIM_disorder_codes