LIPI Chromosome 21
Lipase I
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What This Gene Does
The protein encoded by this gene is a phospholipase that hydrolyzes phosphatidic acid to produce lysophosphatidic acid. Defects in this gene are a cause of susceptibility to familial hypertrigliceridemia. This gene is also expressed at high levels in Ewing family tumor cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
Gene Info
Gene Group
Lipases
Locus Type
gene with protein product
Location
21q11.2
Ensembl
ENSG00000188992
Key Variants
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS146076683 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS534552211 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS781517464 | Health Risk | Conflicting classifications of pathogenicity | — |