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
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