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- Table of Contents
Facts about Mitochondrial thiamine pyrophosphate carrier.
Human | |
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Gene Name: | SLC25A19 |
Uniprot: | Q9HC21 |
Entrez: | 60386 |
Belongs to: |
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mitochondrial carrier (TC 2.A.29) family |
DNC; MCPHA; mitochondrial thiamine pyrophosphate carrier; mitochondrial uncoupling protein 1; MUP1; solute carrier family 25 (mitochondrial deoxynucleotide carrier), member 19; solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19; TPC
Mass (kDA):
35.511 kDA
Human | |
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Location: | 17q25.1 |
Sequence: | 17; NC_000017.11 (75272980..75289958, complement) |
Expressed in all tissues examined except for placenta. Highest levels in colon, kidney, lung, testis, spleen, and brain.
Mitochondrion inner membrane; Multi-pass membrane protein.
SLC25A19 is a mitochondrial deoxyribonucleotide transporter and is found in all human cells. This article will give you an overview of the SLC25A19 gene and its applications in biology. You will also learn the best SLC25A19 immunoglobulin for your research. Continue reading to learn more about the best uses of this marker, and how you can make it work for your research.
The SLC25A19 genes encode the human mitochondrialthiaminepyrophosphatetransporter. It contains a 1080-bp 5' regulatory area that is functional in transient transcriptions. 5'- and 3'-deletion analyses revealed a minimal region that lacks the TATA motif. Additionally, it contains two CCAAT boxes inverted that bind to NF-Y transcription factors.
The SLC25A19 genome is highly conserved in different species and is associated a dramatic drop in mitochondrial levels of TPP. Amish congenital microcephaly, neuropathy and bilateral striatal necrosis can be caused by mutations of this gene. SLC25A19 transcriptional regulation remains elusive. However, the MTPPT system supplies the mitochondria with cofactor and is responsible for energy metabolism/production pathways.
Exome sequencing identified the novel SLC25A19 variations. Functional analysis confirmed the existence of these variants as causing biological defects. Further studies will be necessary to elucidate the function of SLC25A19 and the underlying etiology. Despite being rare, this finding provides important molecular evidence to diagnose and treat patients with ANE.
Slc19a3 RNAi was reversed by the overexpression of human SLC25A19. It also reduced TDBTN and TDBL as well as soma size. However, overexpression of human SLC25A19 rescued the condition, indicating that it is highly specific to the mitochondria. Although mutational analysis didn't reveal any mechanism for SLC25A19's overexpression, it did identify the protein as a key player in mitochondrial deoxyribonucleotide transportation.
The Krebs cycle is a metabolic process in which the gene is required. SLC25A19 deficiency causes lower levels of intermediates in the Krebs cycle. During the Krebs cycle, SLC25A19 is required for condensation of glycine to form heme, which is essential for erythropoeia. In mice, disruption of this enzyme caused heme deficiency, which caused anemia and premature death at E11.5 gestation.
In transgenic mice, overexpression of SLC25A19 in transgenic mice and SLC19A3 was also shown to rescue RNAi effects in a dose dependent manner. TDBTN RNAi was significantly saved in transgenic mice by knockout or overexpression of TPK1. These are components of thiamine metabolism. Small increases in soma size were also observed when TPK1 and SLC19A3 were overexpressed.
SLC25A19 (human deoxyribonucleotide transferer) is critical for ATP biosynthesis. The triplex displacement and (D) loop regions of the mitochondrial genes are prominent features in the human genome. The human mitochondrial ribonucleotide transporter has two distinct modes for association. The first is strand specific. The second mode involves the use of a nondenaturing jelly followed by radiography to identify the specific strand.
Six transmembrane regions are expected to make up the SLC25A19 Protein. The transmembrane domains and mitochondrial matrix were the sites for variants. Although mutations of SLC25A19 have been shown not to completely confirm these results, they have been shown that they can disrupt mitochondrial deoxynucleotide pool function.
Mutations in SLC25A19 result in severe depletion and neuropathy of mitochondrial TP, which can lead to bilateral striatal neoplasm, Amish congenital microcephaly, and neuropathy. Although the mutational protein is highly conserved across species, very little is known about its transcriptional control. The mitochondria are supplied with cofactors for energy metabolism and production by the MTPPT system.
Although the function of SLC25A19 remains unclear, several variants have been identified in the gene. One variant affects the amino acid polarity and charge, while another alters the amino acid space configuration. The mouse and rat versions of the human Slc25A19 gene contain a unique RNAi sequence that can be used for morphological analysis.
SLC25A19 knockout mice showed undetectable ThPP levels in a mouse model. However, mutant cells of Slc25A19 had no ThPP or ThMP. Human lymphoblastic cells showed lower levels of ThPP, ThMP and wild-type mitochondria. These results suggest that the mutant protein may be involved in mitochondrial transport of deoxyribonucleotides in humans.
Clinical study of a 4 year-old boy reveals that this mutation affects brain development. He presented with a viral infection accompanied by decreased muscle strength, limb tension, and respiratory dyspnea. He was admitted to hospital with mechanical ventilation. Brain MRI revealed abnormalities in the midline front lobe, and hippocampus. He was able to recover with normal intelligence, behavior development, and intelligence. His mitochondrial DNA was not positive. He recovered after treatment with oral vitamins B1 and B2. Further investigation was warranted in order to clarify the role of SLC25A19 as it relates to the development and progression of neurological disorders.
Many metabolic processes are influenced by the mitochondrial DNC transporter SLC25A19. It is also critical for the regulation of gene transcription. Many biological assays detect SLC25A19 using antibodies. These antibodies can react with SLC25A19 from a variety of animal specimens and are monoclonal, polyclonal, or both. Boster Bio developed antibodies against SLC25A19 by using rabbit and mouse cells.
The SLC25A19 protein is a component in the mitochondrial thiamine pyrophosphate transportation system. It is responsible the transport of thiamine-pyrophosphate into a mitochondrial nucleus. The transport of thiamine into mitochondria is also thought to contribute to brain development. Therefore, the SLC25A19 gene is an important part of the mitochondrial deoxynucleotide carrier.
SLC25A19 is a specialized RNA bindin protein that is essential for the transport of mitochondrial DNA. Although it is not known exactly what its function is, many biological assays detect its presence using antibodies. SLC25A19 reacts with monoclonal and multiclonal antibodies. They can be used to detect a variety of animal samples. Boster Bio has developed antibodies for recognizing SLC25A19 in rabbit and mouse samples.
This product is designed to enhance the production of the mitochondrial enzyme thiamine pyrophosphate. This substance is a precursor for the thiaminepyrophosphate, a vital nutrient of the Krebs and citric acid systems. Research has also shown a critical role in the development CNS through mitochondrial transport.
PMID: 11226231 by Dolce V., et al. The human mitochondrial deoxynucleotide carrier and its role in the toxicity of nucleoside antivirals.
PMID: 18280798 by Kang J., et al. The evidence that the DNC (SLC25A19) is not the mitochondrial deoxyribonucleotide carrier.