Hexosaminidase A (HEXA) ELISA试剂盒产品概述

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Hexosaminidase A ELISA试剂盒 (HEXA)
在www.antibodies-online.cn可供22 Hexosaminidase A (HEXA) ELISA试剂盒的9不同的供货商。 再加上,我们可以发Hexosaminidase A 抗体 (136)Hexosaminidase A 蛋白 (12)和数多这个蛋白质的别的产品。 总共178 Hexosaminidase A产品已列进来了。
别名:
DKFZp459O0432, fc04h11, Hex-1, HEXA, si:dkey-35i22.2, TSD, wu:fc04h11, wu:fv09f06

适于 Hexosaminidase A 相互作用对的更多 ELISA 试剂盒

Mouse (Murine) Hexosaminidase A (HEXA) interaction partners

  1. Neu4 (显示 NEU4 ELISA试剂盒) is not the only sialidase contributing to the metabolic bypass in Hexa(-/-) mice.

Human Hexosaminidase A (HEXA) interaction partners

  1. The alpha mutants E482K and G269S are defective in enzymatic activity, unprocessed by lysosomal proteases, and exhibit altered folding pathways compared with wild-type alpha. E482K is more severely misfolded than G269S, as observed by its aggregation and inability to associate with the HexA beta chain. Importantly, both mutants are retrotranslocated from the endoplasmic reticulum to the cytosol and are degraded by the ...

  2. reports a new missense mutation in the HEXA gene in two German siblings with late-onset Tay-Sachs disease and prominent psychiatric symptoms

  3. The silencing of the HEXA gene had a stronger immune inhibitory effect, thereby indicating a major involvement of beta-N-acetyl-hexosaminidase A isoenzyme within this mechanism.

  4. Human prostate cancer cells are characterised by a significant decrease in HexA activity.

  5. DNA reveals novel mutations in Iranian subjects causing Tay-Sachs disease in the alpha and beta subunits of HexA.

  6. GM2 (显示 CYB5D2 ELISA试剂盒) gangliosidosis is caused by the gene mutation. (review)

  7. identified 27 different mutations, 14 of which were novel, in the HEXA gene and 14 different mutations, 8 of which unreported until now, in the HEXB (显示 HEXB ELISA试剂盒) gene, and attempted to correlate these mutations with the clinical presentation of the patients

  8. HEXA gene in Argentinean patients affected with Tay-Sachs disease, overall 14 different mutations were identified, 8 of them were novel and lead to premature stop codons, drastic residues changes or a splicing defect.

  9. Beta-hexosaminidase over-expression affects lysosomal glycohydrolases expression and glycosphingolipid metabolism in mammalian cells.

  10. We report the first Jordanian Arab Tay-Sachs disease patient diagnosed by deficient beta-hexosaminidase A activity, mutation analysis revealed homozygosity for a nonsense HEXA mutation, c.78G>A (p.W26X)

Cow (Bovine) Hexosaminidase A (HEXA) interaction partners

  1. SNPs in the HEXA region on chromosome 10 have a protective effect against Bovine spongiform encephalopathy.

Hexosaminidase A (HEXA) 抗原简介

Antigen Summary

This gene encodes the alpha subunit of the lysosomal enzyme beta-hexosaminidase that, together with the cofactor GM2 activator protein, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl hexosamines. Beta-hexosaminidase is composed of two subunits, alpha and beta, which are encoded by separate genes. Both beta-hexosaminidase alpha and beta subunits are members of family 20 of glycosyl hydrolases. Mutations in the alpha or beta subunit genes lead to an accumulation of GM2 ganglioside in neurons and neurodegenerative disorders termed the GM2 gangliosidoses. Alpha subunit gene mutations lead to Tay-Sachs disease (GM2-gangliosidosis type I).

Alternative names and synonyms associated with Hexosaminidase A (HEXA)

  • hexosaminidase A (alpha polypeptide) (HEXA) Elisa Kit
  • hexosaminidase A (alpha polypeptide) (hexa) Elisa Kit
  • hexosaminidase A (LOC100228061) Elisa Kit
  • hexosaminidase A (Hexa) Elisa Kit
  • DKFZp459O0432 Elisa Kit
  • fc04h11 Elisa Kit
  • Hex-1 Elisa Kit
  • HEXA Elisa Kit
  • si:dkey-35i22.2 Elisa Kit
  • TSD Elisa Kit
  • wu:fc04h11 Elisa Kit
  • wu:fv09f06 Elisa Kit

Protein level used designations for Hexosaminidase A (HEXA) ELISA试剂盒

beta-hexosaminidase subunit alpha , beta-hexosaminidase subunit beta , beta-hexosaminidase alpha chain , hexosaminidase A (alpha polypeptide) , beta-hexosaminidase alpha-subunit , hexosaminidase A , Beta-hexosaminidase alpha chain , N-acetyl-beta-glucosaminidase subunit alpha , beta-N-acetylhexosaminidase subunit alpha , hexosaminidase subunit A , Hexose aminidase A (alpha polypeptide) , hexosaminidase A alpha

GENE ID SPECIES
100145856 Ovis aries
100063584 Equus caballus
323613 Danio rerio
415320 Gallus gallus
748732 Pan troglodytes
100008950 Oryctolagus cuniculus
100302663 Pongo abelii
100195429 Salmo salar
100228061 Taeniopygia guttata
15211 Mus musculus
300757 Rattus norvegicus
3073 Homo sapiens
504468 Bos taurus
487633 Canis lupus familiaris
100142664 Sus scrofa
100438794 Pongo abelii
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