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LPAR6
lysophosphatidic acid receptor 6
The LPAR6 gene provides instructions for a receptor protein crucial for hair follicle development and maintaining healthy hair growth, with variants linked to conditions affecting hair texture and density. The LPAR6 gene encodes the lysophosphatidic acid receptor 6 (LPA6), a protein vital for regulating cell growth and division within hair follicles.
LPAR6 is located on the long (q) arm of chromosome 13, at band 13q14.2. Arm ratio per GRCh38 - banding schematic.
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Overview
The LPAR6 gene, or lysophosphatidic acid receptor 6, plays a key role in the development and maintenance of hair. It provides the genetic blueprint for a protein that acts as a receptor on cell surfaces, particularly within hair follicles and the outermost layer of skin, the epidermis. This receptor binds to a specific lipid molecule, initiating cellular responses essential for hair growth and structure.
Dysfunction of the LPAR6 gene, often due to inherited variants, is associated with several conditions characterised by sparse or unusual hair. These conditions highlight the gene's importance in dermatological health.
What the gene does
The LPAR6 gene instructs the cell to produce the lysophosphatidic acid receptor 6 (LPA6) protein. This protein acts as a receptor, meaning it has specific sites that bind to other molecules, much like a key fitting into a lock. Its specific ligand, or binding partner, is lysophosphatidic acid (LPA), a type of fat molecule. Although LPA can interact with various receptors, LPA6 is uniquely found in hair follicles, the specialised structures within the skin responsible for hair growth.
Binding of LPA to the LPA6 receptor helps to regulate crucial cellular processes within the hair follicle. These processes include the proliferation (growth and division) and differentiation (maturation) of cells. By modulating these cellular activities, the LPA6 protein ensures the proper development of the hair strand, pushing it upwards as cells divide and grow. Abnormalities in this binding process can therefore lead to issues with hair formation.
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Chromosome location
The LPAR6 gene is situated on chromosome 13, specifically at position 13q14.2. Chromosome 13 is one of the 23 pairs of chromosomes found in human cells. The 'q' indicates that the gene is located on the long arm of the chromosome, and '14.2' refers to a specific band within that region.
Protein structure
The LPAR6 gene encodes a protein that is 344 amino acids in length. Domain architecture has not been experimentally characterised in detail for this protein.
Key variants
Variants in the LPAR6 gene can alter the function of the lysophosphatidic acid receptor 6 protein. These genetic changes can affect the protein's ability to bind to its ligand, lysophosphatidic acid, or disrupt its role in regulating hair follicle cell activity. Such alterations can lead to impaired hair development and growth.
No pathogenic or likely-pathogenic ClinVar variants recorded yet for this gene.
Associated conditions
Pathogenic variants in the LPAR6 gene are associated with inherited hair conditions, primarily through an autosomal recessive inheritance pattern. These include hypotrichosis, characterised by sparse hair growth on the scalp and sometimes other body parts, and autosomal recessive woolly hair, where hair is unusually coarse, dry, fine, and tightly curled. In some cases, individuals with woolly hair may also develop hypotrichosis later in life.
No disease links recorded for this gene in our reference set.
Inheritance pattern
Conditions caused by pathogenic LPAR6 variants typically follow autosomal recessive inheritance.
When both parents are carriers, each child has a 25% chance of being affected, 50% of being a carrier, and 25% of being unaffected.
UK clinical status
The LPAR6 gene is featured on several NHS Genomic Medicine Service national panels. It is listed as a 'green' gene for Ectodermal dysplasia (R163) and Non-syndromic hypotrichosis, indicating that there is strong evidence for its association with these conditions and that testing is routinely undertaken.
Sources: NHS GMS PanelApp · Genomics England PanelApp · NHS National Genomic Test Directory
Frequently asked questions
What is the LPAR6 gene?
The LPAR6 gene provides instructions for making the lysophosphatidic acid receptor 6 (LPA6) protein. This protein is a receptor that binds to a specific lipid, lysophosphatidic acid, to help regulate cell growth and development in hair follicles.
What conditions are associated with LPAR6 gene variants?
Variants in the LPAR6 gene are primarily associated with inherited hair disorders such as hypotrichosis (sparse hair growth) and autosomal recessive woolly hair (unusually coarse and curly hair).
How are LPAR6-related conditions inherited?
Conditions linked to LPAR6 gene variants are typically inherited in an autosomal recessive pattern. This means an individual must inherit two copies of the altered gene (one from each parent) to develop the condition.
References
- Kurban M, Wajid M, Shimomura Y. Mutations in LPAR6/P2RY5 and LIPH are associated with woolly hair and/or hypotrichosis. Journal of the European Academy of Dermatology and Venereology : JEADV. 2013. PMID: 22385360
- Khan S, Habib R, Mir H. Mutations in the LPAR6 and LIPH genes underlie autosomal recessive hypotrichosis/woolly hair in 17 consanguineous families from Pakistan. Clinical and experimental dermatology. 2011. PMID: 21426374
- Tariq M, Ayub M, Jelani M. Mutations in the P2RY5 gene underlie autosomal recessive hypotrichosis in 13 Pakistani families. The British journal of dermatology. 2009. PMID: 19292720
- Pasternack SM, von Kügelgen I, Al Aboud K. G protein-coupled receptor P2Y5 and its ligand LPA are involved in maintenance of human hair growth. Nature genetics. 2008. PMID: 18297070
- Shimomura Y, Wajid M, Ishii Y. Disruption of P2RY5, an orphan G protein-coupled receptor, underlies autosomal recessive woolly hair. Nature genetics. 2008. PMID: 18297072
- Azeem Z, Jelani M, Naz G. Novel mutations in G protein-coupled receptor gene (P2RY5) in families with autosomal recessive hypotrichosis (LAH3). Human genetics. 2008. PMID: 18461368