HEXB

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HEXB
Protein HEXB PDB 1nou.png
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases HEXB, ENC-1AS, HEL-248, HEL-S-111, hexosaminidase subunit beta
External IDs OMIM: 606873 MGI: 96074 HomoloGene: 437 GeneCards: 3074
RNA expression pattern
PBB GE HEXB 201944 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001292004
NM_000521

NM_010422

RefSeq (protein)

NP_000512.1
NP_001278933.1

NP_034552.1

Location (UCSC) Chr 5: 74.64 – 74.72 Mb Chr 13: 97.18 – 97.2 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

Beta-hexosaminidase subunit beta is an enzyme that in humans is encoded by the HEXB gene.[3][4][5]

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).[5]

References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ O'Dowd BF, Quan F, Willard HF, Lamhonwah AM, Korneluk RG, Lowden JA, Gravel RA, Mahuran DJ (Apr 1985). "Isolation of cDNA clones coding for the beta subunit of human beta-hexosaminidase". Proc Natl Acad Sci U S A. 82 (4): 1184–8. doi:10.1073/pnas.82.4.1184. PMC 397219free to read. PMID 2579389. 
  4. ^ Korneluk RG, Mahuran DJ, Neote K, Klavins MH, O'Dowd BF, Tropak M, Willard HF, Anderson MJ, Lowden JA, Gravel RA (Jul 1986). "Isolation of cDNA clones coding for the alpha-subunit of human beta-hexosaminidase. Extensive homology between the alpha- and beta-subunits and studies on Tay-Sachs disease". J Biol Chem. 261 (18): 8407–13. PMID 3013851. 
  5. ^ a b "Entrez Gene: HEXB hexosaminidase B (beta polypeptide)". 

Further reading[edit]