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Literature summary for 3.1.1.118 extracted from
- Mutations in DDHD1, encoding a phospholipase A1, is a novel cause of retinopathy and neurodegeneration with brain iron accumulation (2017), Eur. J. Med. Genet., 60, 639-642 .
Organism
| Organism | UniProt | Comment | Textmining |
|---|---|---|---|
| Homo sapiens | Q8NEL9 | - |
- |
Source Tissue
| Source Tissue | Comment | Organism | Textmining |
|---|---|---|---|
| brain | - |
Homo sapiens | - |
Synonyms
| Synonyms | Comment | Organism |
|---|---|---|
| DDHD1 | - |
Homo sapiens |
| phospholipase A1 | - |
Homo sapiens |
| PLA1 | - |
Homo sapiens |
General Information
| General Information | Comment | Organism |
|---|---|---|
| malfunction | enzyme mutations can lead to hereditary spastic paraplegia associated with retinal dystrophy and a pattern of neurodegeneration with brain iron accumulation | Homo sapiens |
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Release 2023.1 (January 2023)
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