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The HEXA gene is a protein encoding gene that codes for the lysosomal enzyme beta-hexosaminidase. This enzyme, combined with the GM2 activator protein, is responsible for the breakdown of ganglioside GM2 within the lysosome. Defects in the HEXA gene, however, prevent this degradation, leading to a buildup of toxins in brain and spinal cord cells.
The most common mutation, which occurs in over 80 percent of Tay–Sachs patients, results from a four base pair addition (TATC) in exon 11 of the Hex A gene. This insertion leads to an early stop codon, which causes the Hex A deficiency. [12] Children born with Tay–Sachs usually die between two and four years of age from aspiration and ...
The HEXA gene is located on the long (q) arm of human chromosome 15, between positions 23 and 24. Tay–Sachs disease is an autosomal recessive genetic disorder, meaning that when both parents are carriers, there is a 25% risk of giving birth to an affected child with each pregnancy.
15212 Ensembl ENSG00000049860 ENSMUSG00000021665 UniProt P07686 P20060 RefSeq (mRNA) NM_001292004 NM_000521 NM_010422 RefSeq (protein) NP_000512 NP_001278933 NP_034552 Location (UCSC) Chr 5: 74.64 – 74.72 Mb Chr 13: 97.31 – 97.33 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Beta-hexosaminidase subunit beta is an enzyme that in humans is encoded by the HEXB gene. Hexosaminidase ...
Chromosome 15 is one of the 23 pairs of chromosomes in humans.People normally have two copies of this chromosome. Chromosome 15 spans about 99.7 million base pairs (the building material of DNA) and represents between 3% and 3.5% of the total DNA in cells.
The HEXA gene makes part of an enzyme called beta-hexosaminidase A, which plays a critical role in the nervous system. This enzyme helps break down a fatty substance called GM2 ganglioside in nerve cells. Mutations in the HEXA gene disrupt the activity of beta-hexosaminidase A, preventing the breakdown of the fatty substances.
It is also known as a hexa histidine-tag, 6xHis-tag, or His6 tag. The tag was invented by Roche , [ 1 ] although the use of histidines and its vectors are distributed by Qiagen . Various purification kits for histidine-tagged proteins are commercially available from multiple companies.
15242 Ensembl ENSG00000152804 ENSMUSG00000024986 UniProt Q03014 P43120 RefSeq (mRNA) NM_002729 NM_008245 RefSeq (protein) NP_002720 NP_032271 Location (UCSC) Chr 10: 92.69 – 92.7 Mb Chr 19: 37.42 – 37.43 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Hematopoietically-expressed homeobox protein HHEX is a protein that in humans is encoded by the HHEX gene and also known as ...
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