Mutations in the tafazzin gene (TAZ, also called G4.5) are closely associated with<unk> . The tafazzin gene product functions as an acyltransferase in complex lipid metabolism. In 2008, Dr. Kulik found that all the<unk>  individuals that he tested had abnormalities in their cardiolipin molecules, a lipid found inside the mitochondria of cells. Cardiolipin is intimately connected with the electron transport chain proteins and the membrane structure of the mitochondria which is the energy producing organelle of the cell. The human tafazzin gene, NG_009634, is listed as over 10,000 base pairs in length and the full-length mRNA, NM_000116, is 1919 nucleotides long encoding 11 exons with a predicted protein length of 292 amino acids and a molecular weight of 33.5 kDa. The tafazzin gene is located at Xq28; the long arm of the X chromosome. Mutations in tafazzin that cause<unk>  span many different categories: missense, nonsense, deletion, frameshift, splicing (see Human Tafazzin (TAZ) Gene Mutation & Variation Database).iPLA2-VIA has been suggested as a target for treatment.<unk> 's syndrome <unk> , or cardioskeletal myopathy, also known as type II 3-methylglutaconium aciduria, is a congenital syndrome of phospholipid metabolism characterized by increased and weakened cardiomyopathy, being inherited from the mother, the syndrome modifies the<unk>  gene on the chromosome. X. It is a rare and serious disorder that affects only men, and sometimes fatal. Type of inheritance and encoded genes<unk>  is an X-linked recessive inheritance condition, usually transmitted from mother to baby, where a mother carrying the<unk>  mutation (the gene is called tafazzin - also called TAZ or G4.5) does not has symptoms of this disorder, probably due to distorted X-chromosome inactivation. There are some literatures that address cases of women with the syndrome who may not have developed the disease, but who have a 50% chance of transmitting the modified gene to their children. In these cases, there is a 50% chance that a child generated by a carrier of the syndrome will have a modified gene. The descendants of this affected man may be the carriers, usually asymptomatic, since the gene will be modified. Thus,<unk> 's cases in family histories must be investigated in order to define the genetic risk in each family. Any boy who is matrilineally related to an individual with<unk>  should be tested for this disease because the phenotype can vary widely, even among affected siblings. It is understood that<unk>  is caused by a mutation in the Tafazzin – TAZ gene. Tafazzin is known as a protein, in humans it is encoded by the TAZ gene. It is highly expressed in cardiac and skeletal muscle and acts as a phospholipid-lysophospholipid transacylase. Gene-encoded protein and its function<unk>  is caused by mutations in the TAZ gene (tafazzin - protein; Xq28), which encodes the acyltransferase Taz1p involved in the metabolism of cardiolipin, a phospholipid that plays an important role in the inner membranes of mitochondria. Deficiency in Taz1p function results in abnormal cardiolipin remodeling that ends up compromising the structure and/or function of the mitochondrial respiratory chain.<unk> 's syndrome alters the<unk>  gene on the X chromosome, which can cause cardiac, immunological and male developmental complications. It can be seen by a professional at<unk>  or within a few months after<unk> .
Barth syndrome
Worth syndrome
Terson syndrome
Hunan hand syndrome
Limb girdle syndrome
Lamb-Shaffer syndrome
Achard syndrome
Alien hand syndrome