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Literature summary extracted from

  • Waliany, S.; Das, A.K.; Gaben, A.; Wisniewski, K.E.; Hofmann, S.L.
    Identification of three novel mutations of the palmitoyl-protein thioesterase-1 (PPT1) gene in children with neuronal ceroid-lipofuscinosis (2000), Hum. Mutat., 15, 206-207.
    View publication on PubMed

Cloned(Commentary)

EC Number Cloned (Comment) Organism
3.1.2.22
-
 Homo sapiens

Protein Variants

EC Number Protein Variants Comment Organism
3.1.2.22 F84del natural deletion mutation in gene ppt1, leading to enzyme deficiency and infantile progressive neurological defects Homo sapiens
3.1.2.22 G118D natural mutation in gene ppt1, leading to enzyme deficiency and infantile progressive neurological defects Homo sapiens
3.1.2.22 Q177E natural missense mutation in gene ppt1, leading to enzyme deficiency and progressive neurological defects, late-infantile phenotype Homo sapiens
3.1.2.22 Q291X natural mutation in gene ppt1, leading to enzyme deficiency and infantile progressive neurological defects Homo sapiens
3.1.2.22 R164X natural mutation in gene ppt1, leading to enzyme deficiency and infantile progressive neurological defects Homo sapiens
3.1.2.22 T75P natural mutation in gene ppt1, leading to enzyme deficiency and infantile progressive neurological defects Homo sapiens
3.1.2.22 V181M natural mutation in gene ppt1, leading to enzyme deficiency and infantile progressive neurological defects Homo sapiens

Natural Substrates/ Products (Substrates)

EC Number Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
3.1.2.22 additional information Homo sapiens enzyme deficiency causes progressive neurological and granular osmiophilic deposits, GROD, and infantile neuronal ceroid lipofuscinosis ?
-
 ?

Organism

EC Number Organism UniProt Comment Textmining
3.1.2.22 Homo sapiens
-
-
-

Reaction

EC Number Reaction Comment Organism Reaction ID
3.1.2.22 palmitoyl[protein] + H2O = palmitate + protein specific for long-chain thioesters of fatty acids from S-acylated residues in proteins, palmitoyl cysteine and palmitoyl-CoA Homo sapiens
a

Source Tissue

EC Number Source Tissue Comment Organism Textmining
3.1.2.22 brain
-
 Homo sapiens
-

Substrates and Products (Substrate)

EC Number Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
3.1.2.22 additional information enzyme deficiency causes progressive neurological and granular osmiophilic deposits, GROD, and infantile neuronal ceroid lipofuscinosis Homo sapiens ?
-
 ?
3.1.2.22 palmitoyl-[protein] + H2O
-
 Homo sapiens palmitate + protein
-
 ?