LIPH Gene - Lipase H
Key regulator of hair growth and lipid metabolism
Gene Information Card
| Symbol | LIPH |
|---|---|
| Full Name | Lipase H |
| Gene Type | Protein coding |
| Chromosomal Location | 3q27.2 |
| NCBI Gene ID | 200879 ncbi.nlm.nih.gov/gene/200879 |
| Ensembl ID | ENSG00000163898 |
| UniProt ID | Q8WWY8 |
| OMIM ID | 607365 |
| HGNC ID | 18483 |
| Aliases | PA-PLA1, mPA-PLA1, LPDL, PLA1B |
Description
The LIPH gene encodes lipase H, a membrane-bound phospholipase A1 that catalyzes the hydrolysis of phosphatidic acid to lysophosphatidic acid (LPA). LPA signaling through LPA6 receptor is critical for hair follicle development and maintenance. Mutations in LIPH cause autosomal recessive hypotrichosis (LAH3) and woolly hair, highlighting its essential role in hair growth.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Autosomal recessive hypotrichosis (LAH3) | Loss-of-function mutations impair LPA production, disrupting hair follicle cycling | OMIM #611452 |
| Woolly hair (autosomal recessive) | Same mechanism as LAH3; reduced LPA signaling leads to abnormal hair shaft formation | OMIM #278150 |
| Hypotrichosis with juvenile macular dystrophy (HJMD) | Rare; LIPH mutations may contribute, but primary gene is CDH3 | OMIM #601553 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | 0.0 | Not detected |
| Hair follicle | 0.0 | Not detected (low expression in whole skin) |
| Testis | 0.0 | Not detected |
| Brain | 0.0 | Not detected |
| Adipose tissue | 0.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HaCaT (keratinocytes) | 0.0 | Low/undetectable in standard RNA-seq |
| HEK293 | 0.0 | Not expressed endogenously |
| Hair follicle dermal papilla cells | 0.0 | Expressed at low levels; functional studies confirm activity |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.346C>T (p.Arg116*) | Nonsense | Common in Pakistani families | Loss of function; truncated protein |
| c.659_660delTA (p.Ile220Argfs*28) | Frameshift | Reported in consanguineous families | Loss of function; premature termination |
| c.736T>A (p.Cys246Ser) | Missense | Rare | Loss of function; disrupts catalytic activity |
| c.742C>T (p.Arg248*) | Nonsense | Found in Middle Eastern populations | Loss of function; no active enzyme |
Mutation functional classification
Loss of Function (LOF)
Majority of LIPH mutations are loss-of-function, leading to reduced LPA production and impaired hair follicle signaling.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations described; inheritance is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • phospholipase A1 activity (GO:0008970) | • lipid metabolic process (GO:0006629) |
| • integral component of membrane (GO:0016021) | • phospholipid catabolic process (GO:0009395) |
| • phosphatidylcholine metabolic process (GO:0046470) |
Pathways
• Lysophosphatidic acid (LPA) signaling via LPA6 receptor
• Glycerophospholipid metabolism
Protein Summary
Lipase H (LIPH) is a 451-amino acid membrane-bound phospholipase A1 that specifically hydrolyzes phosphatidic acid to produce 2-acyl-lysophosphatidic acid (LPA). LPA acts as a potent signaling molecule through G-protein-coupled receptors, particularly LPA6, which is essential for hair follicle development. The enzyme is expressed in hair follicles and skin, and its deficiency leads to autosomal recessive hypotrichosis and woolly hair.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LIPH Knockout HEK293 Cell Line | EDJ-KQ4626 | Human | 200879 | Details Get a Quote |
| LIPH Knockout HeLa Cell Line | EDJ-KQ26060 | Human | 200879 | Details Get a Quote |
| LIPH Knockout A-549 Cell Line | EDJ-KQ27302 | Human | 200879 | Details Get a Quote |
| LIPH Knockout HCT 116 Cell Line | EDJ-KQ27303 | Human | 200879 | Details Get a Quote |
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