Abstract
KLHL7 encodes Kelch-like protein 7, which is part of the E3 ubiquitin ligase complex of the proteasomal pathway. Mutations in KLHL7 cause 1–2% of autosomal dominant retinitis pigmentosa (adRP) (rod-cone dystrophy) [1–3].
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References
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Zahid, S. et al. (2018). KLHL7 . In: Retinal Dystrophy Gene Atlas. Springer, Cham. https://doi.org/10.1007/978-3-319-10867-4_42
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DOI: https://doi.org/10.1007/978-3-319-10867-4_42
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