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Literature summary for 3.1.2.22 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
Search for more literature for 3.1.2.22

Cloned(Commentary)

Cloned (Comment) Organism
-
 Homo sapiens

Protein Variants

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

Natural Substrates/ Products (Substrates)

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

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Reaction

Reaction Comment Organism Reaction ID
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

Source Tissue Comment Organism Textmining
brain
-
 Homo sapiens
-

Substrates and Products (Substrate)

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