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Titin is the third most abundant protein in muscle (after myosin and actin), and an adult human contains approximately 0.5 kg of titin. [13] With its length of ~27,000 to ~35,000 amino acids (depending on the splice isoform ), titin is the largest known protein . [ 14 ]
Two mutations in Telethonin, Thr137Ile and Arg153His have been associated with hypertrophic cardiomyopathy, which enhance the binding of Telethonin with Titin and MYOZ2. The Glu132Gln mutation has been associated with dilated cardiomyopathy, which has the opposite effect in that it impairs the binding of Telethonin with Titin and MYOZ2. [31]
This gene encodes a muscle-specific member of the calpain large subunit family that specifically binds to titin. Mutations in this gene are associated with limb-girdle muscular dystrophies type 2A. Alternate promoters and alternative splicing result in multiple transcript variants encoding different isoforms and some variants are ubiquitously ...
The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child.
About 25–35% of affected individuals have familial forms of the disease, [14] with most mutations affecting genes encoding cytoskeletal proteins, [14] while some affect other proteins involved in contraction. [22] The disease is genetically heterogeneous, but the most common form of its transmission is an autosomal dominant pattern. [14]
Alpha-actinin-2 is a 103.8 kDa protein composed of 894 amino acids. [6] [7] Each molecule is rod-shaped (35 nm in length) and it homodimerizes in an anti-parallel fashion.. Each monomer has an N-terminal actin-binding region composed of two calponin homology domains, two C-terminal EF hand domains, and four tandem spectrin-like repeats form the rod domain in the central region of the molecule.
58916 Ensembl ENSG00000120729 ENSMUSG00000024471 UniProt Q9UBF9 Q9JIF9 RefSeq (mRNA) NM_006790 NM_001135940 NM_001300911 NM_001033621 RefSeq (protein) NP_001129412 NP_001287840 NP_006781 NP_001028793 Location (UCSC) Chr 5: 137.87 – 137.89 Mb Chr 18: 44.47 – 44.49 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Myotilin is a protein that in humans is encoded by the MYOT gene ...
TTN (gene), the gene that encodes the protein 'titin', once the largest known protein; Totton railway station (station code TTN), Hampshire, England, UK; Toxic thyroid nodule; Transient tachypnea of the newborn; Trenton–Mercer Airport (IATA airport code TTN), West Trenton, Ewing, Mercer, New Jersey, USA; ttn, an Australian children's news program