LPAR6 Chromosome 13
Lysophosphatidic acid receptor 6
Upload your DNA to see your personal genotypes for variants in LPAR6.
What This Gene Does
The protein encoded by this gene belongs to the family of G-protein coupled receptors, that are preferentially activated by adenosine and uridine nucleotides. This gene aligns with an internal intron of the retinoblastoma susceptibility gene in the reverse orientation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2009]
Gene Info
Gene Group
Lysophosphatidic acid receptors
Locus Type
gene with protein product
Location
13q14.2
Ensembl
ENSG00000139679
Associated Conditions (4)
Hypotrichosis 8
Wooly hair
autosomal recessive 1
with or without hypotrichosis
Key Variants
RS115596308
Conflicting classifications of pathogenicity
Hypotrichosis 8, Hypotrichosis 8
Health Risk
RS121434306
Likely pathogenic
Hypotrichosis 8, Hypotrichosis 8
Health Risk
RS121434308
Likely pathogenic
Hypotrichosis 8, Hypotrichosis 8
Health Risk
RS1566212378
Likely pathogenic
Hypotrichosis 8, Hypotrichosis 8
Health Risk
RS1948803416
Likely pathogenic
Hypotrichosis 8, Hypotrichosis 8
Health Risk
RS2542254523
Likely pathogenic
Hypotrichosis 8, Hypotrichosis 8
Health Risk
RS2542255397
Likely pathogenic
Hypotrichosis 8, Hypotrichosis 8
Health Risk
RS2542256275
Likely pathogenic
Hypotrichosis 8, Hypotrichosis 8
Health Risk
RS879255262
Likely pathogenic
Hypotrichosis 8, Hypotrichosis 8
Health Risk
RS2138204557
Pathogenic
Hypotrichosis 8, Hypotrichosis 8
Health Risk
RS2542261609
Pathogenic
Hypotrichosis 8, Hypotrichosis 8
Health Risk
RS759807882
Pathogenic
Hypotrichosis 8, Hypotrichosis 8
Health Risk
All Variants (14)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS115596308 | Health Risk | Conflicting classifications of pathogenicity | Hypotrichosis 8, Hypotrichosis 8 |
| RS121434306 | Health Risk | Likely pathogenic | Hypotrichosis 8, Hypotrichosis 8 |
| RS121434308 | Health Risk | Likely pathogenic | Hypotrichosis 8, Hypotrichosis 8 |
| RS1566212378 | Health Risk | Likely pathogenic | Hypotrichosis 8, Hypotrichosis 8 |
| RS1948803416 | Health Risk | Likely pathogenic | Hypotrichosis 8, Hypotrichosis 8 |
| RS2542254523 | Health Risk | Likely pathogenic | Hypotrichosis 8, Hypotrichosis 8 |
| RS2542255397 | Health Risk | Likely pathogenic | Hypotrichosis 8, Hypotrichosis 8 |
| RS2542256275 | Health Risk | Likely pathogenic | Hypotrichosis 8, Hypotrichosis 8 |
| RS879255262 | Health Risk | Likely pathogenic | Hypotrichosis 8, Hypotrichosis 8 |
| RS2138204557 | Health Risk | Pathogenic | Hypotrichosis 8, Hypotrichosis 8 |
| RS2542261609 | Health Risk | Pathogenic | Hypotrichosis 8, Hypotrichosis 8 |
| RS759807882 | Health Risk | Pathogenic | Hypotrichosis 8, Hypotrichosis 8 |
| RS121434307 | Health Risk | Pathogenic/Likely pathogenic | Wooly hair, autosomal recessive 1, with or without hypotrichosis |
| RS121434309 | Health Risk | Pathogenic/Likely pathogenic | Hypotrichosis 8, Hypotrichosis 8 |