Entity Details
| Primary name |
LMF1_HUMAN |
| Entity type |
UniProt |
| Source |
Source Link |
Details
| Accession | Q96S06 |
| EntryName | LMF1_HUMAN |
| FullName | Lipase maturation factor 1 |
| TaxID | 9606 |
| Evidence | evidence at protein level |
| Length | 567 |
| SequenceStatus | complete |
| DateCreated | 2007-02-06 |
| DateModified | 2021-06-02 |
Subcellular Location
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| Subcellular Location |
| Endoplasmic reticulum membrane |
Domains
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| Domain | Name | Category | Type |
| IPR009613 | Lipase maturation factor | Family | Family |
Diseases
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| Disease ID | Source | Name | Description |
| 246650 | OMIM | Combined lipase deficiency (CLD) | Characterized by repeated episodes of pancreatitis, tuberous xanthomas and lipodystrophy and is caused by deficiency of both lipoprotein lipase (LPL) and hepatic triglyceride lipase (HTGL). The disease is caused by variants affecting the gene represented in this entry. |
Interactions
3 interactions