LIPH Chromosome 3
Lipase H
Upload your DNA to see your personal genotypes for variants in LIPH.
What This Gene Does
This gene encodes a membrane-bound member of the mammalian triglyceride lipase family. It catalyzes the production of 2-acyl lysophosphatidic acid (LPA), which is a lipid mediator with diverse biological properties that include platelet aggregation, smooth muscle contraction, and stimulation of cell proliferation and motility. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Lipases
Locus Type
gene with protein product
Location
3q27.2
Ensembl
ENSG00000163898
Associated Conditions (6)
Woolly hair
autosomal recessive 2
with or without hypotrichosis
Hypotrichosis 7
LIPH-related disorder
Hypotrichosis simplex
Key Variants
RS1720449752
Pathogenic
Woolly hair, autosomal recessive 2, with or without hypotrichosis
Health Risk
RS2148959539
Pathogenic
Hypotrichosis 7, Hypotrichosis 7
Health Risk
RS267607219
Pathogenic
Woolly hair, autosomal recessive 2, with or without hypotrichosis
Health Risk
RS559648418
Pathogenic
Hypotrichosis 7, Woolly hair, autosomal recessive 2
Health Risk
RS201249971
Pathogenic/Likely pathogenic
Woolly hair, autosomal recessive 2, with or without hypotrichosis
Health Risk
RS201868115
Pathogenic/Likely pathogenic
Woolly hair, autosomal recessive 2, with or without hypotrichosis
Health Risk
RS760309219
Pathogenic/Likely pathogenic
LIPH-related disorder, LIPH-related disorder
Health Risk
RS768448663
Pathogenic/Likely pathogenic
Hypotrichosis 7, Hypotrichosis 7
Health Risk
All Variants (8)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1720449752 | Health Risk | Pathogenic | Woolly hair, autosomal recessive 2, with or without hypotrichosis |
| RS2148959539 | Health Risk | Pathogenic | Hypotrichosis 7, Hypotrichosis 7 |
| RS267607219 | Health Risk | Pathogenic | Woolly hair, autosomal recessive 2, with or without hypotrichosis |
| RS559648418 | Health Risk | Pathogenic | Hypotrichosis 7, Woolly hair, autosomal recessive 2 |
| RS201249971 | Health Risk | Pathogenic/Likely pathogenic | Woolly hair, autosomal recessive 2, with or without hypotrichosis |
| RS201868115 | Health Risk | Pathogenic/Likely pathogenic | Woolly hair, autosomal recessive 2, with or without hypotrichosis |
| RS760309219 | Health Risk | Pathogenic/Likely pathogenic | LIPH-related disorder, LIPH-related disorder |
| RS768448663 | Health Risk | Pathogenic/Likely pathogenic | Hypotrichosis 7, Hypotrichosis 7 |