HEXB

AcronymDefinition
HEXBHexosaminidase B
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References in periodicals archive ?
TSD and SD are a result of lysosomal [beta]-HEXA deficiencies caused by gene mutations in HEXA and HEXB, respectively encoding the [alpha]- and [beta]-subunits of HEXA ([alpha][beta] heterodimer) and are associated with an excessive accumulation of GM2 in the brain, which leads to neurological symptoms.
GM2 gangliosidoses in Spain: analysis of the HEXA and HEXB genes in 34 Tay-Sachs and 14 Sandhoff patients.
The top three genes with a high absolute value of coefficient factor, namely, 2583 (B4GALNT1), 2720 (GLB1), and 3074 (HEXB), are selected to represent genes for this canonical variable (Figure 4(b), Table 1).
The top five genes with a high absolute value of coefficient factor, namely, 10825 (NEU3), 2720 (GLB1), 074 (HEXB), 129807 (NEU4), and 2519 (FUCA2), are selected to represent the genes for this canonical variable (Figure 4(b), Table 1).
The expression levels of metabolic genes, namely, 2583 (B4GALNT1), 2720 (GLB1), and 3074 (HEXB), were determined by q-PCR.
Both the human HexA and HexB are the [beta]-N-acetyl-D-hexosaminidases that degrade glycoconjugate in the lysosome [4, 14].
Animal clade clearly splits into two clades, A and B, that contain the isoenzymes, HexA and HexB, respectively.
Human genome data analysis showed that both genes, HexA and HexB, are located in different locus in the chromosomes-15q23-24 and -5q13, respectively.
To identify TSD carriers by use of an enzymatic assay, the combined activities of HEXA and HEXB, as well as the activity of HEXB after heat-inactivation of HEXA, are determined.
[6] Nonstandard abbreviations: TSD, Tay-Sachs Disease; HEXA, [beta]-hexosaminidase A; HEXB, [beta]-hexosaminidase B; CI, confidence interval; HEXS, [beta]-hexosaminidase S; SSCP, single-strand conformational polymorphism.
[7] Human genes: HEXA, alpha polypeptide gene; HEXB, beta polypeptide gene.