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GlossaryRSPO1

protein regulating hair growth and skin development

RSPO1, or R-spondin 1, is a protein that plays a crucial role in the regulation of hair growth and skin development. It activates the Wnt signaling pathway, which is essential for the proliferation and differentiation of hair follicle cells. Mutations in the RSPO1 gene can lead to conditions like palmoplantar hyperkeratosis and predispose individuals to certain types of alopecia.

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RSPO1-Mutated Keratinocytes From Palmoplantar Keratoderma Display Impaired Differentiation and Invasiveness: Implications for Squamous Cell Carcinoma Susceptibility in Patients With 46XX Disorder of Sexual Development

research RSPO1-Mutated Keratinocytes From Palmoplantar Keratoderma Display Impaired Differentiation and Invasiveness: Implications for Squamous Cell Carcinoma Susceptibility in Patients With 46XX Disorder of Sexual Development

5 citations, July 2022 in “Orphanet journal of rare diseases”

RSPO1 mutations in certain patients lead to skin cells that don't develop properly and are more likely to become invasive, increasing the risk of skin cancer.