The RanBP2 gene encodes a very large RAN-binding protein that localizes to cytoplasmic filaments emanating from the nuclear pore complex. RanBP2/Nup358 is a giant scaffold and mosaic cyclophilin -related nucleoporin implicated in …

2024年12月25日 · RANBP2 (RAN Binding Protein 2) is a Protein Coding gene. Diseases associated with RANBP2 include Familial Acute Necrotizing Encephalopathy and Acute Necrotizing Encephalitis. Among its related pathways are Transport of the SLBP independent Mature mRNA and EML4 and NUDC in mitotic spindle formation.

The RANBP2 gene provides instructions for making a protein that typically associates with a protein complex known as the nuclear pore. Learn about this gene and related health conditions.

Missense mutations in RAN Binding Protein 2 (RANBP2) can cause genetic (also known as familial) acute necrotizing encephalopathy (ANE1). Persons with RANBP2 mutations are susceptible to infection triggered attacks which can occur in a multiphasic manner, causing severe neurologic morbidity and mortality.

Acute necrotizing encephalopathy (ANEC) is a rare entity characterized by encephalopathy following a febrile illness. Most patients are sporadic; however, recurrent and familial cases have been associated with RAN-binding protein 2 (RANBP2) ...

2016年5月10日 · We describe three in vitro reconstituted disassembly intermediates, which show binding of a Crm1 export complex via two FG-repeat patches, cargo-release by RanBP2’s Ran-binding domains and...

2019年5月31日 · The RANBP2 is a component of the nuclear pore complex and plays a role in facilitation of protein import and export, sumoylation of protein cargoes, intracellular trafficking, and energy maintenance (Neilson et al., 2009).

A missense mutation in nuclear pore gene RANBP2 has been identified as a major cause of familial and recurrent ANE, which is now termed as ANE1. First presentation of ANE can …

RAN is a small GTP-binding protein of the RAS superfamily that is associated with the nuclear membrane and is thought to control a variety of cellular functions through its interactions with other proteins. This gene encodes a very large RAN-binding protein that immunolocalizes to the nuclear pore complex.

2024年4月7日 · Clinical resource with information about RANBP2, Familial acute necrotizing encephalopathy, and available tests. There are links to practice guidelines and authoritative resources like GeneReviews, PubMed, MedlinePlus, PharmGKB and clinicaltrials.gov.