Entrez Gene ID | 4018 |
---|---|
Official Gene Symbol | LPA (GeneCards) |
Full name | lipoprotein(a) |
Location | 6q25.3-q26 |
Other ids | Vega : OTTHUMG00000015956 MIM : 152200 HGNC : HGNC:6667 Ensembl : ENSG00000198670 |
Other names | LP, AK38, APOA |
Summary | 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] |
Found 5 variants in this database.
Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
---|---|---|---|---|---|---|---|
23179 | 4018 | LPA | 6 | 160982254 | 160982254 | Asymptomatic | Single cell Sequencing Cell cloning |
26278 | 4018 | LPA | 6 | 161076794 | 161076794 | Asymptomatic | Single cell Sequencing Cell cloning |
29225 | 4018 | LPA | 6 | 160998168 | 160998168 | Autism Spectrum Disorders | Single cell Sequencing Cell cloning PASM |
29385 | 4018 | LPA | 6 | 161056186 | 161056186 | Autism Spectrum Disorders | Single cell Sequencing Cell cloning PASM MiSeq |
29797 | 4018 | LPA | 6 | 160998168 | 160998168 | Autism Spectrum Disorders | Single cell Sequencing Cell cloning PASM MiSeq NextSeq500 |