LPA Chromosome 6
Lipoprotein(a)
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What This Gene Does
The protein encoded by this gene is a serine proteinase that inhibits the activity of tissue-type plasminogen activator I. The encoded protein constitutes a substantial portion of lipoprotein(a) and is proteolytically cleaved, resulting in fragments that attach to atherosclerotic lesions and promote thrombogenesis. Elevated plasma levels of this protein are linked to atherosclerosis. Depending on the individual, the encoded protein contains 2-43 copies of kringle-type domains. The allele represented here contains 15 copies of the kringle-type repeats and corresponds to that found in the reference genome sequence. [provided by RefSeq, Dec 2009]
Gene Info
Gene Group
Kringle domain containing
Locus Type
gene with protein product
Location
6q25.3-q26
Ensembl
ENSG00000198670
Associated Conditions (2)
Lipoprotein(a) deficiency
congenital
Key Variants
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS121912503 | Health Risk | Pathogenic | Lipoprotein(a) deficiency, congenital, Lipoprotein(a) deficiency |