LPIN1 Chromosome 2
Lipin 1
Upload your DNA to see your personal genotypes for variants in LPIN1.
What This Gene Does
This gene encodes a magnesium-ion-dependent phosphatidic acid phosphohydrolase enzyme that catalyzes the penultimate step in triglyceride synthesis including the dephosphorylation of phosphatidic acid to yield diacylglycerol. Expression of this gene is required for adipocyte differentiation and it also functions as a nuclear transcriptional coactivator with some peroxisome proliferator-activated receptors to modulate expression of other genes involved in lipid metabolism. Mutations in this gene are associated with metabolic syndrome, type 2 diabetes, acute recurrent rhabdomyolysis, and autosomal recessive acute recurrent myoglobinuria (ARARM). This gene is also a candidate for several human lipodystrophy syndromes. [provided by RefSeq, Mar 2017]
Gene Info
Gene Group
"Lipins|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
2p25.1
Ensembl
ENSG00000134324
Associated Conditions (8)
Myoglobinuria
acute recurrent
autosomal recessive
LPIN1-related disorder
Inborn genetic diseases
Familial cancer of breast
Acute rhabdomyolysis
See cases
Key Variants
RS114931326
Conflicting classifications of pathogenicity
Myoglobinuria, acute recurrent, autosomal recessive
Health Risk
RS137942440
Conflicting classifications of pathogenicity
Myoglobinuria, acute recurrent, autosomal recessive
Health Risk
RS139771618
Conflicting classifications of pathogenicity
Myoglobinuria, acute recurrent, autosomal recessive
Health Risk
RS140846512
Conflicting classifications of pathogenicity
Myoglobinuria, acute recurrent, autosomal recessive
Health Risk
RS141555457
Conflicting classifications of pathogenicity
Myoglobinuria, acute recurrent, autosomal recessive
Health Risk
RS145021638
Conflicting classifications of pathogenicity
Myoglobinuria, acute recurrent, autosomal recessive
Health Risk
RS145629147
Conflicting classifications of pathogenicity
Myoglobinuria, acute recurrent, autosomal recessive
Health Risk
RS146048019
Conflicting classifications of pathogenicity
Myoglobinuria, acute recurrent, autosomal recessive
Health Risk
RS146100011
Conflicting classifications of pathogenicity
Myoglobinuria, acute recurrent, autosomal recessive
Health Risk
RS146180669
Conflicting classifications of pathogenicity
Myoglobinuria, acute recurrent, autosomal recessive
Health Risk
RS146529487
Conflicting classifications of pathogenicity
Myoglobinuria, acute recurrent, autosomal recessive
Health Risk
RS150089043
Conflicting classifications of pathogenicity
Myoglobinuria, acute recurrent, autosomal recessive
Health Risk
All Variants (70)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS114931326 | Health Risk | Conflicting classifications of pathogenicity | Myoglobinuria, acute recurrent, autosomal recessive |
| RS137942440 | Health Risk | Conflicting classifications of pathogenicity | Myoglobinuria, acute recurrent, autosomal recessive |
| RS139771618 | Health Risk | Conflicting classifications of pathogenicity | Myoglobinuria, acute recurrent, autosomal recessive |
| RS140846512 | Health Risk | Conflicting classifications of pathogenicity | Myoglobinuria, acute recurrent, autosomal recessive |
| RS141555457 | Health Risk | Conflicting classifications of pathogenicity | Myoglobinuria, acute recurrent, autosomal recessive |
| RS145021638 | Health Risk | Conflicting classifications of pathogenicity | Myoglobinuria, acute recurrent, autosomal recessive |
| RS145629147 | Health Risk | Conflicting classifications of pathogenicity | Myoglobinuria, acute recurrent, autosomal recessive |
| RS146048019 | Health Risk | Conflicting classifications of pathogenicity | Myoglobinuria, acute recurrent, autosomal recessive |
| RS146100011 | Health Risk | Conflicting classifications of pathogenicity | Myoglobinuria, acute recurrent, autosomal recessive |
| RS146180669 | Health Risk | Conflicting classifications of pathogenicity | Myoglobinuria, acute recurrent, autosomal recessive |
| RS146529487 | Health Risk | Conflicting classifications of pathogenicity | Myoglobinuria, acute recurrent, autosomal recessive |
| RS150089043 | Health Risk | Conflicting classifications of pathogenicity | Myoglobinuria, acute recurrent, autosomal recessive |
| RS189276809 | Health Risk | Conflicting classifications of pathogenicity | Myoglobinuria, acute recurrent, autosomal recessive |
| RS192688285 | Health Risk | Conflicting classifications of pathogenicity | Myoglobinuria, acute recurrent, autosomal recessive |
| RS200527588 | Health Risk | Conflicting classifications of pathogenicity | Myoglobinuria, acute recurrent, autosomal recessive |
| RS200898383 | Health Risk | Conflicting classifications of pathogenicity | Myoglobinuria, acute recurrent, autosomal recessive |
| RS201744351 | Health Risk | Conflicting classifications of pathogenicity | Myoglobinuria, acute recurrent, autosomal recessive |
| RS369684215 | Health Risk | Conflicting classifications of pathogenicity | Myoglobinuria, acute recurrent, autosomal recessive |
| RS369969697 | Health Risk | Conflicting classifications of pathogenicity | Myoglobinuria, acute recurrent, autosomal recessive |
| RS371419134 | Health Risk | Conflicting classifications of pathogenicity | Myoglobinuria, acute recurrent, autosomal recessive |
| RS371725918 | Health Risk | Conflicting classifications of pathogenicity | Myoglobinuria, acute recurrent, autosomal recessive |
| RS372109726 | Health Risk | Conflicting classifications of pathogenicity | Myoglobinuria, acute recurrent, autosomal recessive |
| RS375865167 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS376096398 | Health Risk | Conflicting classifications of pathogenicity | Myoglobinuria, acute recurrent, autosomal recessive |
| RS398124543 | Health Risk | Conflicting classifications of pathogenicity | Myoglobinuria, acute recurrent, autosomal recessive |
| RS546979072 | Health Risk | Conflicting classifications of pathogenicity | Myoglobinuria, acute recurrent, autosomal recessive |
| RS548508177 | Health Risk | Conflicting classifications of pathogenicity | Myoglobinuria, acute recurrent, autosomal recessive |
| RS564822781 | Health Risk | Conflicting classifications of pathogenicity | Myoglobinuria, acute recurrent, autosomal recessive |
| RS752905024 | Health Risk | Conflicting classifications of pathogenicity | Myoglobinuria, acute recurrent, autosomal recessive |
| RS757007907 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS762701125 | Health Risk | Conflicting classifications of pathogenicity | Myoglobinuria, acute recurrent, autosomal recessive |
| RS765092602 | Health Risk | Conflicting classifications of pathogenicity | Myoglobinuria, acute recurrent, autosomal recessive |
| RS768837921 | Health Risk | Conflicting classifications of pathogenicity | Myoglobinuria, acute recurrent, autosomal recessive |
| RS771205777 | Health Risk | Conflicting classifications of pathogenicity | Myoglobinuria, acute recurrent, autosomal recessive |
| RS775088748 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS777255851 | Health Risk | Conflicting classifications of pathogenicity | Myoglobinuria, acute recurrent, autosomal recessive |
| RS777607912 | Health Risk | Conflicting classifications of pathogenicity | Myoglobinuria, acute recurrent, autosomal recessive |
| RS777836868 | Health Risk | Conflicting classifications of pathogenicity | Myoglobinuria, acute recurrent, autosomal recessive |
| RS1301982277 | Health Risk | Likely pathogenic | — |
| RS1678013520 | Health Risk | Likely pathogenic | Myoglobinuria, acute recurrent, autosomal recessive |
| RS2148644309 | Health Risk | Likely pathogenic | See cases, See cases |
| RS2148722783 | Health Risk | Likely pathogenic | — |
| RS2546083545 | Health Risk | Likely pathogenic | — |
| RS1171013095 | Health Risk | Pathogenic | — |
| RS119480071 | Health Risk | Pathogenic | Myoglobinuria, acute recurrent, autosomal recessive |
| RS119480072 | Health Risk | Pathogenic | Myoglobinuria, acute recurrent, autosomal recessive |
| RS119480073 | Health Risk | Pathogenic | Myoglobinuria, acute recurrent, autosomal recessive |
| RS1273800088 | Health Risk | Pathogenic | — |
| RS1315818704 | Health Risk | Pathogenic | — |
| RS1476347603 | Health Risk | Pathogenic | — |