NRARP
Description
The NRARP (NOTCH regulated ankyrin repeat protein) is a protein-coding gene located on chromosome 9.
NOTCH regulated ankyrin repeat protein is a protein that in humans is encoded by the NRARP gene.
NRARP is a downstream effector of Notch signaling. It plays a role in regulating liver cancer cell self-renewal (PubMed:25985737) and angiogenesis, acting downstream of Notch at branch points to regulate vascular density (PubMed:19154719). NRARP is suggested to integrate endothelial Notch and Wnt signaling to control stalk cell proliferation and stabilize new endothelial connections during angiogenesis (PubMed:19154719). During somitogenesis, NRARP is involved in maintaining proper somite segmentation and the correct number of somites and vertebrae. It is required for proper anterior-posterior somite patterning. NRARP is proposed to function in a negative feedback loop to destabilize Notch 1 intracellular domain (NICD) and down-regulate the Notch signal, preventing expansion of the Notch signal into the anterior somite domain (By similarity). NRARP interacts with LEF1. {ECO:0000250|UniProtKB:Q91ZA8, ECO:0000269|PubMed:19154719, ECO:0000269|PubMed:25985737, ECO:0000305|PubMed:25985737}
NRARP is also known as -.
Associated Diseases
- autosomal recessive spondylocostal dysostosis
- posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome
- autosomal dominant spondylocostal dysostosis
- microcephaly-cervical spine fusion anomalies syndrome
- Klippel-Feil syndrome 3, autosomal dominant
- diaphanospondylodysostosis
- retinitis pigmentosa
- Becker nevus syndrome
- multiple synostoses syndrome 2
- Prata-Liberal-Goncalves syndrome
- brachyolmia, Maroteaux type
- autosomal dominant brachyolmia
- contractures, pterygia, and variable skeletal fusions syndrome 1B
- Wildervanck syndrome
- Klippel-Feil syndrome 2, autosomal recessive
- thoracolaryngopelvic dysplasia
