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- Table of Contents
Facts about Hereditary hemochromatosis protein.
Human | |
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Gene Name: | HFE |
Uniprot: | Q30201 |
Entrez: | 3077 |
Belongs to: |
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MHC class I family |
dJ221C16.10.1; hemochromatosis; hereditary hemochromatosis protein HLA-H; hereditary hemochromatosis protein; HH; high Fe; HLAH; HLA-HHFE1; MGC103790; MHC class I-like protein HFE; MVCD7
Mass (kDA):
40.108 kDA
Human | |
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Location: | 6p22.2 |
Sequence: | 6; NC_000006.12 (26087281..26098343) |
Expressed in all tissues tested except brain.
Cell membrane; Single-pass type I membrane protein.
Steven Boster (and the HFE Marker) are the latest buzzwords among the histology community. Boster is a company offering high affinity primary antibodies that are known for their excellent citation record. These antibodies are trusted by the research community and have been validated for use in Western Blotting, Immunohistochemistry, and ELISA. This article will explain more about Boster, the HFE Marker and other related topics.
If you're curious about the best uses of HFE markers, then keep reading. There are many. Steve Boster created the first. This handy marker is for horse-related purposes. The second option is even better. It can be used for diagnosing HFE in horses. You can also use it to determine if your horse is infected.
Boster bio's Histology of HFE is a complex disorder characterised by hemochromatosis. The disorder is transmitted in a recessive way. There are two major mutations in the HFE gene, C282Y/Y. C282Y/Y genotypes account in large part for clinically-penetrant cases. Hanson and colleagues. Hanson et. al. (2001) found that 52-100% of the previously reported cases were homozygous in C282Y.
The current study combines several in silico tools, based on different principles, to examine the possible harmful effects of nsSNPs found in the GJA3 genome. The results of this study will not require biological experiment confirmation and may provide an alternative approach for fast and inexpensive pathological nsSNP screening. Its main finding was that congenital or pre-existing cataracts is the most common risk nsSNP.
The family A5013 has pTSNS and one individual has membranoproliferative glomerulonephritis. HM reveals 12 homozygosities by descent, as well as a novel homozygous missingense mutation in exon 6, which encodes cyclindependent kinase. The mutation alters an amino acid residue that is already conserved.
Using in silico analysis, we identified 93 nsSNPs with high-frequency missense SNPs. Eight of these were considered deleterious, and they were located in conserved locations. In addition to their predicted effect, four of these SNPs were located within functional areas. Two of them were previously found in obese individuals. PolyPhen also predicted lower deleterious consequences than SIFT.
The results are promising in terms of lung cancer survival. The study found 14,400 SNPs within 176 genes related the lymphocyte activation pathway. These data were validated with a dataset of 984 Harvard Lung Cancer Susceptibility patients (HLCS). Further, nsSNPs in lung carcinoma play a significant role when determining cancer susceptibility.
According to the Boster Bio collection, the majority of splicing error resulting from single-nucleotide mutations that alter the RNA process machinery are found in the Histology of Alternative Splice Variants. The resultant difference in the mRNA from a mutant gene transcription is likely to be due an increase in the number of introns. Probabilistic analysis shows that splicing related mutations are responsible for about 60% of all human disease-causing genes. Thus, splicing may be responsible for a third of all hereditary diseases.
Adenovirus type 2 was the first to identify the process of alternative splicing. The transcriptome of human Adenovirus type 2 was updated with next-generation sequencing techniques. It revealed 904 distinct, distinct mRNA isoforms. Only a few functional splice variants were discovered. This study however demonstrates the effectiveness of this process in understanding the functions RNA plays in the human body.
Aldehyde Dehydrogenase 1 (ALDh2A3) is a family member that encodes a gene for the excision and metabolism of 8 oxoguanine. This enzyme is involved with apoptosis, programmed necrosis, and is associated with the development of Alzheimer's. The OGG1 genes also contain a lyase activity. This activity is associated mitochondrial targeting.
While most alternative variants of splicing result in a reduced protein, some evidence suggests some splicing events still produce detectable protein. In addition, a subset of AS variants detected by proteomic studies shows clear signs of protein functionality. Moreover, the vast majority of AS variants maintain the reading frame, while only a small number disrupt protein domains.
Boster bio mutations can cause atypical phenotypes such as renal cell carcinoma. These mutations are associated to missense or frameshift mutants. These mutations may enable future therapeutic approaches. In addition, these mutations may result in altered localization and inhibition of ubiquitination. This is why it is important to rescue these mutations in order to better understand their effects on disease phenotypes and make predictions.
While most BHD syndrome mutations occur in the coding area, some mutations can be found in non-coding regions. Non-coding-region mutations can be difficult to predict, unlike classical nonsense mutations. To assess the potential pathogenicity of novel mutations, biochemical workups must be performed. Renal carcinomas in patients with BHD syndrome are most likely to be chromophobe. There are also subtypes of aggressive course.
PMID: 8696333 by Feder J.N., et al. A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis.
PMID: 9149941 by Ruddy D.A., et al. A 1.1-Mb transcript map of the hereditary hemochromatosis locus.