Abstract
SEMA4A encodes semaphorin-4A, a cell surface receptor involved in cell-to-cell signaling, which plays a role in adaptive immunity as well as in inhibition of angiogenesis and axonal growth. One study showed that mutations in SEMA4A result in RPE cell susceptibility to light, oxidative, and endoplasmic reticulum stress in vitro [1]. Mutations in SEMA4A have been shown to cause autosomal recessive and autosomal dominant retinitis pigmentosa (rod-cone dystrophy) and recessive cone-rod dystrophy [2].
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References
Tsuruma K, Nishimura Y, Kishi S, Shimazawa M, Tanaka T, Hara H. SEMA4A mutations lead to susceptibility to light irradiation, oxidative stress, and ER stress in retinal pigment epithelial cells. Invest Ophthalmol Vis Sci. 2012;53(10):6729–37.
Abid A, Ismail M, Mehdi SQ, Khaliq S. Identification of novel mutations in the SEMA4A gene associated with retinal degenerative diseases. J Med Genet. 2006;43(4):378–81.
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Zahid, S. et al. (2018). SEMA4A . In: Retinal Dystrophy Gene Atlas. Springer, Cham. https://doi.org/10.1007/978-3-319-10867-4_77
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DOI: https://doi.org/10.1007/978-3-319-10867-4_77
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