Ferredoxin 2 is a protein that in humans is encoded by the FDX2 gene. It participates in heme A synthesis and iron-sulphur protein synthesis. [5]
Mutations in FDX2 cause mitochondrial myopathy. [6]
Ferredoxin 2 is a protein that in humans is encoded by the FDX2 gene. It participates in heme A synthesis and iron-sulphur protein synthesis. [5]
Mutations in FDX2 cause mitochondrial myopathy. [6]
Adrenal ferredoxin is a protein that in humans is encoded by the FDX1 gene. In addition to the expressed gene at this chromosomal locus (11q22), there are pseudogenes located on chromosomes 20 and 21.
ATP-binding cassette sub-family B member 7, mitochondrial is a protein that in humans is encoded by the ABCB7 gene.
Protoheme IX farnesyltransferase, mitochondrial is an enzyme that in humans is encoded by the COX10 gene. Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene, COX10, encodes heme A: farnesyltransferase, which is not a structural subunit but required for the expression of functional COX and functions in the maturation of the heme A prosthetic group of COX. A gene mutation, which results in the substitution of a lysine for an asparagine (N204K), is identified to be responsible for cytochrome c oxidase deficiency. In addition, this gene is disrupted in patients with CMT1A duplication and with HNPP deletion.
39S ribosomal protein L11, mitochondrial is a protein that in humans is encoded by the MRPL11 gene.
Cytochrome c-type heme lyase is an enzyme that in humans is encoded by the HCCS gene on chromosome X.
Mitochondrial tRNA-specific 2-thiouridylase 1 is an enzyme that in humans is encoded by the TRMU gene.
28S ribosomal protein S16, mitochondrial is a protein that in humans is encoded by the MRPS16 gene.
Trans-2-enoyl-CoA reductase, mitochondrial is an enzyme that in humans is encoded by the MECR gene.
tRNA pseudouridine synthase A is an enzyme that in humans is encoded by the PUS1 gene.
Iron-sulfur cluster assembly enzyme ISCU, mitochondrial is a protein that in humans is encoded by the ISCU gene. It encodes an iron-sulfur (Fe-S) cluster scaffold protein involved in [2Fe-2S] and [4Fe-4S] cluster synthesis and maturation. A deficiency of ISCU is associated with a mitochondrial myopathy with lifelong exercise intolerance where only minor exertion causes tachycardia, shortness of breath, muscle weakness and myalgia.
39S ribosomal protein L37, mitochondrial is a protein that in humans is encoded by the MRPL37 gene.
Seryl-tRNA synthetase, mitochondrial is an enzyme that in humans is encoded by the SARS2 gene.
Calcium-binding atopy-related autoantigen 1 is a protein that in humans is encoded by the CBARA1 gene.
Cytochrome c oxidase assembly protein COX15 homolog (COX15), also known as heme A synthase, is a protein that in humans is encoded by the COX15 gene. This protein localizes to the inner mitochondrial membrane and involved in heme A biosynthesis. COX15 is also part of a three-component mono-oxygenase that catalyses the hydroxylation of the methyl group at position eight of the protoheme molecule. Mutations in this gene has been reported in patients with hypertrophic cardiomyopathy as well as Leigh syndrome, and characterized by delayed onset of symptoms, hypotonia, feeding difficulties, failure to thrive, motor regression, and brain stem signs.
Myotubularin related protein 14 also known as MTMR14 is a protein which in humans is encoded by the MTMR14 gene.
Glutaredoxin 5, also known as GLRX5, is a protein which in humans is encoded by the GLRX5 gene located on chromosome 14. This gene encodes a mitochondrial protein, which is evolutionarily conserved. It is involved in the biogenesis of iron- sulfur clusters, which are required for normal iron homeostasis. Mutations in this gene are associated with autosomal recessive pyridoxine-refractory sideroblastic anemia.
Mitochondrial glycine transporter is a protein that in humans is encoded by the SLC25A38 gene. SLC25A38 is involved in mitochondrial handling of glycine and is needed for the first step in heme synthesis. Mutations in this gene can lead to an autosomal recessive form of sideroblastic anemia.
Mitochondrial ribosomal protein L3 is a protein that in humans is encoded by the MRPL3 gene.
Thymidine kinase 2, mitochondrial is a protein that in humans is encoded by the TK2 gene.
Transmembrane protein 70 is a protein that in humans is encoded by the TMEM70 gene. It is a transmembrane protein located in the mitochondrial inner membrane involved in the assembly of the F1 and Fo structural subunits of ATP synthase. Mutations in this gene have been associated with neonatal mitochondrial encephalo-cardiomyopathy due to ATP synthase deficiency, causing a wide variety of symptoms including 3-methylglutaconic aciduria, lactic acidosis, mitochondrial myopathy, and cardiomyopathy.
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