Cloned (Comment) | Organism |
---|---|
- |
Homo sapiens |
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 | 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 | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
- |
- |
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 |
Source Tissue | Comment | Organism | Textmining |
---|---|---|---|
brain | - |
Homo sapiens | - |
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 | - |
? |