Retinoblastoma-like protein 2
Retinoblastoma-like protein 2 is a protein that in humans is encoded by the RBL2 gene. RBL2 is one of three retinoblastoma proteins encoded in the human genome.
Interactions
Retinoblastoma-like protein 2 has been shown to interact with:- BRCA1,
- BRF1
- C-Raf,
- Cyclin E1,
- Cyclin-dependent kinase 2,
- HDAC1,
- Prohibitin, and
- RBBP8.
Human disease
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 seizures.The genetic basis of RBL2-linked disease is caused by bi-allelic loss-of-function mutations.