Gene: RIF1
Alternate names for this Gene: -
Gene Summary: This gene encodes a protein that shares homology with the yeast teleomere binding protein, Rap1 interacting factor 1. This protein localizes to aberrant telomeres may be involved in DNA repair. Alternate splicing results in multiple transcript variants.
Gene is located in Chromosome: 2
Location in Chromosome : 2q23.3
Description of this Gene: replication timing regulatory factor 1
Type of Gene: protein-coding
Gene: NEB
Alternate names for this Gene: NEB177D|NEM2
Gene Summary: This gene encodes nebulin, a giant protein component of the cytoskeletal matrix that coexists with the thick and thin filaments within the sarcomeres of skeletal muscle. In most vertebrates, nebulin accounts for 3 to 4% of the total myofibrillar protein. The encoded protein contains approximately 30-amino acid long modules that can be classified into 7 types and other repeated modules. Protein isoform sizes vary from 600 to 800 kD due to alternative splicing that is tissue-, species-,and developmental stage-specific. Of the 183 exons in the nebulin gene, at least 43 are alternatively spliced, although exons 143 and 144 are not found in the same transcript. Of the several thousand transcript variants predicted for nebulin, the RefSeq Project has decided to create three representative RefSeq records. Mutations in this gene are associated with recessive nemaline myopathy.
Gene is located in Chromosome: 2
Location in Chromosome : 2q23.3
Description of this Gene: nebulin
Type of Gene: protein-coding
rs555445835 in
RIF1;NEB gene and
Myopathies, Nemaline
PMID 24056153 2015 Nemaline myopathy type 2 (NEM2): two novel mutations in the nebulin (NEB) gene.
PMID 12207938 2002 Nebulin mutations in autosomal recessive nemaline myopathy: an update.
PMID 15336686 2004 Genotype-phenotype correlations in nemaline myopathy caused by mutations in the genes for nebulin and skeletal muscle alpha-actin.
PMID 16917880 2006 Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathy.
PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
PMID 25356970 2015 Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions.
rs112610938 in
RIF1;NEB gene and
Nemaline Myopathy 2
PMID 25205138 2014 Mutation update: the spectra of nebulin variants and associated myopathies.
PMID 24725366 2014 Muscle histopathology in nebulin-related nemaline myopathy: ultrastrastructural findings correlated to disease severity and genotype.
PMID 25356970 2015 Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions.
PMID 22941678 2012 Expression of multiple nebulin isoforms in human skeletal muscle and brain.
PMID 28132693 2017 Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration.
PMID 24056153 2015 Nemaline myopathy type 2 (NEM2): two novel mutations in the nebulin (NEB) gene.
PMID 26197980 2016 A recurrent copy number variation of the NEB triplicate region: only revealed by the targeted nemaline myopathy CGH array.
PMID 16917880 2006 Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathy.
PMID 12207938 2002 Nebulin mutations in autosomal recessive nemaline myopathy: an update.
PMID 21520333 2011 LOVD v.2.0: the next generation in gene variant databases.
PMID 27105866 2016 New Mutations in NEB Gene Discovered by Targeted Next-Generation Sequencing in Nemaline Myopathy Italian Patients.