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Branched chain amino acid transaminase 1 is a protein that in humans is encoded by the BCAT1 gene. [5] It is the first enzyme in the branched-chain amino acid (BCAA) degradation pathway and facilitates the reversible transamination of BCAAs and glutamate. BCAT1 resides in the cytoplasm, while its isoform, BCAT2, is found in the mitochondria.
BCAT1 is located in the mitochondria, BCAT2, 3, and 5 are located in chloroplasts, and BCAT4 and 6 are located in the cytoplasm of A. thaliana. [23] However, studies of BCATs in Solanum tuberosum (potato) revealed two isoforms that are 683 (BCAT1) and 746 (BCAT2) bp long located primarily in chloroplasts. [24]
MT-TP mutations may result in complex I deficiency of the mitochondrial respiratory chain, which may cause a wide variety of signs and symptoms affecting many organs and systems of the body, particularly the nervous system, the heart, and the muscles used for movement (skeletal muscles). These signs and symptoms can appear at any time from ...
BCS1L is located on the q arm of chromosome 2 in position 35 and has 10 exons. [5] The BCS1L gene produces a 47.5 kDa protein composed of 419 amino acids. [8] [9] The protein encoded by BCS1L belongs to the AAA ATPase family, BCS1 subfamily.
BAP1 mutations have been identified in aggressive mesotheliomas with similar mutations as seen in melanomas,. [15] Mutations in the tumor suppressor gene BAP1 occur in approximately 15% of clear cell renal cell carcinoma (CCRCC) cases. Sequencing efforts demonstrated worse outcomes in patients with BAP1 mutated clear cell renal cell carcinoma. [16]
BRCA1-associated RING domain protein 1 is a protein that in humans is encoded by the BARD1 gene. [5] [6] [7] The human BARD1 protein is 777 amino acids long and contains a RING finger domain (residues 46-90), four ankyrin repeats (residues 420-555), and a tandem BRCT domain (residues 568-777).
Mutations of BRG1 are associated with context-dependent expression changes at MYC-genes, which indicates that the BRG1 and MYC proteins are functionally related. [ 15 ] [ 11 ] [ 17 ] Another study demonstrated a causal role of BRG1 in the control of retinoic acid and glucocorticoid-induced cell differentiation in lung cancer and in other tumor ...
That BAG3 mutations are responsible for familial dilated cardiomyopathy is confirmed by another study describing 6 new molecular variants (2 missense and 4 premature Stops ). Moreover, the same publication reported that BAG3 polymorphisms are also associated with sporadic forms of the disease together with HSPB7 locus.