HEXB

Hexosaminidase B (beta polypeptide), also known as HEXB, is a human gene.cite web | title = Entrez Gene: HEXB hexosaminidase B (beta polypeptide)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=3074| accessdate = ]

PBB_Summary
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summary_text = Hexosaminidase B is the beta 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. Beta subunit gene mutations lead to Sandhoff disease (GM2-gangliosidosis type II).cite web | title = Entrez Gene: HEXB hexosaminidase B (beta polypeptide)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=3074| accessdate = ]

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Mahuran DJ |title=The biochemistry of HEXA and HEXB gene mutations causing GM2 gangliosidosis. |journal=Biochim. Biophys. Acta |volume=1096 |issue= 2 |pages= 87–94 |year= 1991 |pmid= 1825792 |doi=
*cite journal | author=Mahuran DJ |title=Biochemical consequences of mutations causing the GM2 gangliosidoses. |journal=Biochim. Biophys. Acta |volume=1455 |issue= 2-3 |pages= 105–38 |year= 1999 |pmid= 10571007 |doi=
*cite journal | author=Gilbert F, Kucherlapati R, Creagan RP, "et al." |title=Tay-Sachs' and Sandhoff's diseases: the assignment of genes for hexosaminidase A and B to individual human chromosomes. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=72 |issue= 1 |pages= 263–7 |year= 1975 |pmid= 1054503 |doi=
*cite journal | author=McInnes B, Potier M, Wakamatsu N, "et al." |title=An unusual splicing mutation in the HEXB gene is associated with dramatically different phenotypes in patients from different racial backgrounds. |journal=J. Clin. Invest. |volume=90 |issue= 2 |pages= 306–14 |year= 1992 |pmid= 1386607 |doi=
*cite journal | author=Bolhuis PA, Bikker H |title=Deletion of the 5'-region in one or two alleles of HEXB in 15 out of 30 patients with Sandhoff disease. |journal=Hum. Genet. |volume=90 |issue= 3 |pages= 328–9 |year= 1993 |pmid= 1487253 |doi=
*cite journal | author=Wakamatsu N, Kobayashi H, Miyatake T, Tsuji S |title=A novel exon mutation in the human beta-hexosaminidase beta subunit gene affects 3' splice site selection. |journal=J. Biol. Chem. |volume=267 |issue= 4 |pages= 2406–13 |year= 1992 |pmid= 1531140 |doi=
*cite journal | author=Banerjee P, Siciliano L, Oliveri D, "et al." |title=Molecular basis of an adult form of beta-hexosaminidase B deficiency with motor neuron disease. |journal=Biochem. Biophys. Res. Commun. |volume=181 |issue= 1 |pages= 108–15 |year= 1992 |pmid= 1720305 |doi=
*cite journal | author=Boose JA, Tifft CJ, Proia RL, Myerowitz R |title=Synthesis of a human lysosomal enzyme, beta-hexosaminidase B, using the baculovirus expression system. |journal=Protein Expr. Purif. |volume=1 |issue= 2 |pages= 111–20 |year= 1992 |pmid= 1967020 |doi=
*cite journal | author=Mahuran DJ |title=Characterization of human placental beta-hexosaminidase I2. Proteolytic processing intermediates of hexosaminidase A. |journal=J. Biol. Chem. |volume=265 |issue= 12 |pages= 6794–9 |year= 1990 |pmid= 2139028 |doi=
*cite journal | author=Neote K, McInnes B, Mahuran DJ, Gravel RA |title=Structure and distribution of an Alu-type deletion mutation in Sandhoff disease. |journal=J. Clin. Invest. |volume=86 |issue= 5 |pages= 1524–31 |year= 1990 |pmid= 2147027 |doi=
*cite journal | author=Neote K, Brown CA, Mahuran DJ, Gravel RA |title=Translation initiation in the HEXB gene encoding the beta-subunit of human beta-hexosaminidase. |journal=J. Biol. Chem. |volume=265 |issue= 34 |pages= 20799–806 |year= 1991 |pmid= 2147427 |doi=
*cite journal | author=Dlott B, d'Azzo A, Quon DV, Neufeld EF |title=Two mutations produce intron insertion in mRNA and elongated beta-subunit of human beta-hexosaminidase. |journal=J. Biol. Chem. |volume=265 |issue= 29 |pages= 17921–7 |year= 1990 |pmid= 2170400 |doi=
*cite journal | author=Nakano T, Suzuki K |title=Genetic cause of a juvenile form of Sandhoff disease. Abnormal splicing of beta-hexosaminidase beta chain gene transcript due to a point mutation within intron 12. |journal=J. Biol. Chem. |volume=264 |issue= 9 |pages= 5155–8 |year= 1989 |pmid= 2522450 |doi=
*cite journal | author=Hubbes M, Callahan J, Gravel R, Mahuran D |title=The amino-terminal sequences in the pro-alpha and -beta polypeptides of human lysosomal beta-hexosaminidase A and B are retained in the mature isozymes. |journal=FEBS Lett. |volume=249 |issue= 2 |pages= 316–20 |year= 1989 |pmid= 2525487 |doi=
*cite journal | author=O'Dowd BF, Quan F, Willard HF, "et al." |title=Isolation of cDNA clones coding for the beta subunit of human beta-hexosaminidase. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=82 |issue= 4 |pages= 1184–8 |year= 1985 |pmid= 2579389 |doi=
*cite journal | author=Bikker H, van den Berg FM, Wolterman RA, "et al." |title=Demonstration of a Sandhoff disease-associated autosomal 50-kb deletion by field inversion gel electrophoresis. |journal=Hum. Genet. |volume=81 |issue= 3 |pages= 287–8 |year= 1989 |pmid= 2921040 |doi=
*cite journal | author=Bolhuis PA, Oonk JG, Kamp PE, "et al." |title=Ganglioside storage, hexosaminidase lability, and urinary oligosaccharides in adult Sandhoff's disease. |journal=Neurology |volume=37 |issue= 1 |pages= 75–81 |year= 1987 |pmid= 2948136 |doi=
*cite journal | author=Proia RL |title=Gene encoding the human beta-hexosaminidase beta chain: extensive homology of intron placement in the alpha- and beta-chain genes. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=85 |issue= 6 |pages= 1883–7 |year= 1988 |pmid= 2964638 |doi=
*cite journal | author=Mahuran DJ, Neote K, Klavins MH, "et al." |title=Proteolytic processing of pro-alpha and pro-beta precursors from human beta-hexosaminidase. Generation of the mature alpha and beta a beta b subunits. |journal=J. Biol. Chem. |volume=263 |issue= 10 |pages= 4612–8 |year= 1988 |pmid= 2965147 |doi=

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