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The MT-ATP6 gene provides information for making a protein that is essential for normal mitochondrial function. The human MT-ATP6 gene, located in mitochondrial DNA, is 681 base pairs in length. [7] An unusual feature of MT-ATP6 is the 46-nucleotide gene overlap of its first codons with the end of the MT-ATP8 gene.
PUS1, YARS2, MT-ATP6: AR/MT 600462 613561 [24] GD: 516060 [25] Myopathy, isolated mitochondrial, autosomal dominant (IMMD) CHCHD10: AD 616209 [26] Myopathy, mitochondrial, and ataxia (MMYAT) MSTO1: AR/AD 617675 [27] Mitochondrial myopathy, episodic, with or without optic atrophy and reversible leukoencephalopathy (MEOAL) FDX2: AR 251900 [28]
The most common MT-ATP6 mutation found with Leigh syndrome is a point mutation at nucleotide 8993 that changes a thymine to a guanine. This and other point mutations associated with Leigh syndrome destabilize or malform the protein complex and keep energy production down in affected cells. [11]
With respect to the reading frame (+1) of MT-ATP8, the MT-ATP6 gene starts on the +3 reading frame. The MT-ATP8 protein weighs 8 kDa and is composed of 68 amino acids . [ 7 ] [ 8 ] The protein is a subunit of the F 1 F o ATPase, also known as Complex V , which consists of 14 nuclear- and 2 mitochondrial-encoded subunits.
Neuropathy, ataxia, and retinitis pigmentosa, also known as NARP syndrome, is a rare disease with mitochondrial inheritance that causes a variety of signs and symptoms chiefly affecting the nervous system [1] Beginning in childhood or early adulthood, most people with NARP experience numbness, tingling, or pain in the arms and legs (sensory neuropathy); muscle weakness; and problems with ...
MT-ND1 is a gene of the mitochondrial genome coding for the NADH-ubiquinone oxidoreductase chain 1 (ND1) protein. [5] The ND1 protein is a subunit of NADH dehydrogenase , which is located in the mitochondrial inner membrane and is the largest of the five complexes of the electron transport chain . [ 6 ]
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The MT-ND4 gene is located in human mitochondrial DNA from base pair 10,760 to 12,137. [5] [11] The MT-ND4 gene produces a 52 kDa protein composed of 459 amino acids.[12] [13] MT-ND4 is one of seven mitochondrial genes encoding subunits of the enzyme NADH dehydrogenase (ubiquinone), together with MT-ND1, MT-ND2, MT-ND3, MT-ND4L, MT-ND5, and MT-ND6.