LPAR6

Chr 13AR

lysophosphatidic acid receptor 6

Also known as: ARWH1, HYPT8, LAH3, LPA-6, P2RY5, P2Y5

The LPAR6 protein is a G-protein coupled receptor that binds lysophosphatidic acid and is important for maintaining hair growth and texture through cAMP signaling pathways. Mutations cause autosomal recessive hypotrichosis and woolly hair disorders characterized by sparse, abnormally textured hair that is typically apparent from birth or early childhood. These conditions primarily affect hair follicle development and maintenance without significant involvement of other organ systems.

OMIMResearchSummary from RefSeq, OMIM, UniProt
MultiplemechanismARLOEUF 1.272 OMIM phenotypes
Clinical SummaryLPAR6
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint
1.27LOEUF
pLI 0.001
Z-score 1.01
OE 0.64 (0.351.27)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
0.11Z-score
OE missense 0.98 (0.861.11)
174 obs / 178.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.64 (0.351.27)
00.351.4
Missense OE0.98 (0.861.11)
00.61.4
Synonymous OE0.88
01.21.6
LoF obs/exp: 6 / 9.3Missense obs/exp: 174 / 178.3Syn Z: 0.73
Curated Mechanism (G2P)Gene2Phenotype (DDG2P) ↗
strongLPAR6-related hypotrichosis/woolly hair with or without hypotrichosisOTHERAR

Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.

DN
0.79top 25%
GOF
0.82top 10%
LOF
0.2288th %ile

The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

LPAR6 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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