Entity Details
Primary name |
LICH_HUMAN |
Entity type |
UniProt |
Source |
Source Link |
Details
Accession | P38571 |
EntryName | LICH_HUMAN |
FullName | Lysosomal acid lipase/cholesteryl ester hydrolase |
TaxID | 9606 |
Evidence | evidence at protein level |
Length | 399 |
SequenceStatus | complete |
DateCreated | 1994-10-01 |
DateModified | 2021-06-02 |
Subcellular Location
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Subcellular Location |
Lysosome |
Domains
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Domain | Name | Category | Type |
IPR000073 | Alpha/beta hydrolase fold-1 | Domain | Domain |
IPR025483 | Lipase, eukaryotic | Family | Family |
IPR029058 | Alpha/Beta hydrolase fold | Family | Homologous superfamily |
Diseases
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Disease ID | Source | Name | Description |
278000 | OMIM | Wolman disease (WOD) | A severe manifestation of LIPA deficiency, leading to the accumulation of cholesteryl esters and triglycerides in most tissues of the body. WD occurs in infancy and is nearly always fatal before the age of 1 year. The disease is caused by variants affecting the gene represented in this entry. |
278000 | OMIM | Wolman disease (WOD) | A severe manifestation of LIPA deficiency, leading to the accumulation of cholesteryl esters and triglycerides in most tissues of the body. WD occurs in infancy and is nearly always fatal before the age of 1 year. The disease is caused by variants affecting the gene represented in this entry. |
Interactions
0 interactions
Interactor | Partner | Sources | Publications | Link |