Retinoblastoma-like protein 2 is a protein that in humans is encoded by the RBL2 gene. [5] [6] RBL2 is one of three retinoblastoma proteins encoded in the human genome (along with Rb and RBL1).
Retinoblastoma-like protein 2 has been shown to interact with:
Mutations in RBL2 have been linked to a severe neurodevelopmental disorder characterised by morphological and behavioural abnormalities. Symptoms include intellectual disability, developmental delay, microcephaly, dysmorphic features, gait abnormalities, and siezures. [18] [19] [20]
The genetic basis of RBL2-linked disease is caused by bi-allelic loss-of-function mutations (including nonsense mutations, frameshifts,splicing mutations, and deletions. [18]
RBL2-linked disease is a rare genetic disorder with only 35 patients identified worldwide (2025). [18]
This article incorporates text from the United States National Library of Medicine, which is in the public domain.