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- Table of Contents
Facts about Heat shock factor protein 4.
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Human | |
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Gene Name: | HSF4 |
Uniprot: | Q9ULV5 |
Entrez: | 3299 |
Belongs to: |
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HSF family |
ATHSF4; AT-HSFB1; cataract, Marner; CTM; heat shock factor protein 4; heat shock transcription factor 4CTM; hHSF4; HSF 4; HSF4; HSFB1; HSTF 4
Mass (kDA):
53.011 kDA
Human | |
---|---|
Location: | 16q22.1 |
Sequence: | 16; NC_000016.10 (67163761..67169941) |
Expressed in heart, skeletal muscle, eye and brain, and at much lower levels in some other tissues.
Nucleus.
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This study shows how a missense mutation in HSF4 causes a modification in the giant panda's protein's surface structure. By using a template of Streptococcus pneumoniae hyaluronate lyase, we are able to visualize the predicted changes to the protein surface. The R377 molecule forms hydrogen bonds with G372 as well as cation/p interactions with P398. While the W377 molecule engages in two p/p stacking interactions, it interacts with P412.
In addition, HSF4 interacts with other proteins, including BCL634, a dual-specificity phosphatase, and several members of the mitogen-activated protein kinase (MAPK) family. HSF1 activation may alter the expression of genes and alter the cell metabolism. It is not yet clear how this transcriptional pattern regulates the cell's response heat stress.
A single copy of the HSF4 gene was sequenced in a Tunisian family, and a matched control group. The cataract gene was linked to D16S3043), and D16S415. Haplotype analysis also revealed that the causative genes are located in D16S415. Both autosomal dominant inheritance and autosomal recessive modes of cataracts are associated with the HSF4 genes.
The ASHGI recommended that all dogs be tested for this gene. This marker should not be used to disregard other potential health issues. There are many DNA-based screening tests that can be used. Breeders should determine the relative risks associated with each of these diseases before breeding. It is important to prioritize different health traits. You can find out more about HSF4 and its variants by using the ASHGI/IDASH Pedigree Analysis Service.
Many types of congenital cataracts in humans have been linked to the HSF4 gene. Early cataracts can be seen in the hsf4/null model of zebrafish. These early cataracts are caused by mutations at HSF4 gene. Additionally, each mutation has a different effect on the clinical condition. Further analysis is required in order to identify the association between the HSF4 gene mutation and cataract disease. If you are interested in studying the HSF4 gene and its variants, we invite you to contact us and share your thoughts and findings with us!
The HSF4 gene is crucial for the development and maintenance of the hereditary condition cataract. The HSF4 genetic mutation is closely associated with cataracts. This is why there is a high correlation between HSF4 genes and the disease. This mutation is a significant cause for the disease in both male and females. It is also a risk factor to developing hereditary vision loss. Read the entire research article to learn more about this mutation.
PMID: 8972228 by Nakai A., et al. HSF4, a new member of the human heat shock factor family which lacks properties of a transcriptional activator.
PMID: 10488131 by Tanabe M., et al. The mammalian HSF4 gene generates both an activator and a repressor of heat shock genes by alternative splicing.