• Gene id: 3073

Gene Summary

• Gene Symbol: HEXA   Gene   UCSC   Ensembl
• Aliases: TSD
• Gene name: hexosaminidase subunit alpha
• Alternate names: beta-hexosaminidase subunit alpha, N-acetyl-beta-glucosaminidase subunit alpha, beta-N-acetylhexosaminidase subunit alpha, hexosaminidase A (alpha polypeptide), hexosaminidase subunit A,
• Gene location: 15q23 (72376472: 72343434)     Exons: 14     NC_000015.10
• Gene summary(Entrez): This gene encodes a member of the glycosyl hydrolase 20 family of proteins. The encoded preproprotein is proteolytically processed to generate the alpha subunit of the lysosomal enzyme beta-hexosaminidase. This enzyme, together with the cofactor GM2 activ
• OMIM: 606869

Protein Summary

• Protein general information: P06865  
  • Name: Beta hexosaminidase subunit alpha (EC 3.2.1.52) (Beta N acetylhexosaminidase subunit alpha) (Hexosaminidase subunit A) (N acetyl beta glucosaminidase subunit alpha)
  • Length: 529  
  • Mass: 60,703
• Sequence:

  MTSSRLWFSLLLAAAFAGRATALWPWPQNFQTSDQRYVLYPNNFQFQYDVSSAAQPGCSVLDEAFQRYRDLLFGS
  GSWPRPYLTGKRHTLEKNVLVVSVVTPGCNQLPTLESVENYTLTINDDQCLLLSETVWGALRGLETFSQLVWKSA
  EGTFFINKTEIEDFPRFPHRGLLLDTSRHYLPLSSILDTLDVMAYNKLNVFHWHLVDDPSFPYESFTFPELMRKG
  SYNPVTHIYTAQDVKEVIEYARLRGIRVLAEFDTPGHTLSWGPGIPGLLTPCYSGSEPSGTFGPVNPSLNNTYEF
  MSTFFLEVSSVFPDFYLHLGGDEVDFTCWKSNPEIQDFMRKKGFGEDFKQLESFYIQTLLDIVSSYGKGYVVWQE
  VFDNKVKIQPDTIIQVWREDIPVNYMKELELVTKAGFRALLSAPWYLNRISYGPDWKDFYIVEPLAFEGTPEQKA
  LVIGGEACMWGEYVDNTNLVPRLWPRAGAVAERLWSNKLTSDLTFAYERLSHFRCELLRRGVQAQPLNVGFCEQE
  FEQT

• Structural information:
  • Interpro: IPR025705  IPR015883  IPR017853  IPR029018  IPR029019  
  • PDB: 1QBC 2GJX 2GK1
  • PDBsum: 1QBC 2GJX 2GK1
  • STRING: ENSP00000268097
• Other Databases: GeneCards:  HEXA  Malacards:  HEXA

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004563	beta-N-acetylhexosaminidase activity	TAS	molecular function
GO:0004563	beta-N-acetylhexosaminidase activity	TAS	molecular function
GO:0004563	beta-N-acetylhexosaminidase activity	TAS	molecular function
GO:0004563	beta-N-acetylhexosaminidase activity	TAS	molecular function
GO:0004563	beta-N-acetylhexosaminidase activity	TAS	molecular function
GO:0005975	carbohydrate metabolic process	IEA	biological process
GO:0006024	glycosaminoglycan biosynthetic process	IDA	biological process
GO:0006687	glycosphingolipid metabolic process	TAS	biological process
GO:0008375	acetylglucosaminyltransferase activity	IDA	molecular function
GO:0016020	membrane	IDA	cellular component
GO:0030207	chondroitin sulfate catabolic process	TAS	biological process
GO:0030214	hyaluronan catabolic process	TAS	biological process
GO:0042340	keratan sulfate catabolic process	TAS	biological process
GO:0042582	azurophil granule	IDA	cellular component
GO:0043202	lysosomal lumen	TAS	cellular component
GO:0043202	lysosomal lumen	TAS	cellular component
GO:0043202	lysosomal lumen	TAS	cellular component
GO:0043202	lysosomal lumen	TAS	cellular component
GO:0043202	lysosomal lumen	TAS	cellular component
GO:0046982	protein heterodimerization activity	IDA	molecular function
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0004553	hydrolase activity, hydrolyzing O-glycosyl compounds	IEA	molecular function
GO:0004563	beta-N-acetylhexosaminidase activity	IEA	molecular function
GO:0004563	beta-N-acetylhexosaminidase activity	IEA	molecular function
GO:0004563	beta-N-acetylhexosaminidase activity	TAS	molecular function
GO:0004563	beta-N-acetylhexosaminidase activity	TAS	molecular function
GO:0004563	beta-N-acetylhexosaminidase activity	TAS	molecular function
GO:0004563	beta-N-acetylhexosaminidase activity	TAS	molecular function
GO:0004563	beta-N-acetylhexosaminidase activity	TAS	molecular function
GO:0005764	lysosome	IEA	cellular component
GO:0005764	lysosome	IEA	cellular component
GO:0005975	carbohydrate metabolic process	IEA	biological process
GO:0006024	glycosaminoglycan biosynthetic process	IDA	biological process
GO:0006687	glycosphingolipid metabolic process	TAS	biological process
GO:0008152	metabolic process	IEA	biological process
GO:0008375	acetylglucosaminyltransferase activity	IDA	molecular function
GO:0016020	membrane	IDA	cellular component
GO:0016787	hydrolase activity	IEA	molecular function
GO:0016798	hydrolase activity, acting on glycosyl bonds	IEA	molecular function
GO:0030207	chondroitin sulfate catabolic process	TAS	biological process
GO:0030214	hyaluronan catabolic process	TAS	biological process
GO:0042340	keratan sulfate catabolic process	TAS	biological process
GO:0042582	azurophil granule	IDA	cellular component
GO:0043202	lysosomal lumen	TAS	cellular component
GO:0043202	lysosomal lumen	TAS	cellular component
GO:0043202	lysosomal lumen	TAS	cellular component
GO:0043202	lysosomal lumen	TAS	cellular component
GO:0043202	lysosomal lumen	TAS	cellular component
GO:0046982	protein heterodimerization activity	IDA	molecular function
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0004563	beta-N-acetylhexosaminidase activity	TAS	molecular function
GO:0004563	beta-N-acetylhexosaminidase activity	TAS	molecular function
GO:0004563	beta-N-acetylhexosaminidase activity	TAS	molecular function
GO:0004563	beta-N-acetylhexosaminidase activity	TAS	molecular function
GO:0004563	beta-N-acetylhexosaminidase activity	TAS	molecular function
GO:0006024	glycosaminoglycan biosynthetic process	IDA	biological process
GO:0006687	glycosphingolipid metabolic process	TAS	biological process
GO:0008375	acetylglucosaminyltransferase activity	IDA	molecular function
GO:0016020	membrane	IDA	cellular component
GO:0030207	chondroitin sulfate catabolic process	TAS	biological process
GO:0030214	hyaluronan catabolic process	TAS	biological process
GO:0042340	keratan sulfate catabolic process	TAS	biological process
GO:0042582	azurophil granule	IDA	cellular component
GO:0043202	lysosomal lumen	TAS	cellular component
GO:0043202	lysosomal lumen	TAS	cellular component
GO:0043202	lysosomal lumen	TAS	cellular component
GO:0043202	lysosomal lumen	TAS	cellular component
GO:0043202	lysosomal lumen	TAS	cellular component
GO:0046982	protein heterodimerization activity	IDA	molecular function
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa04142	Lysosome

Diseases

Associated diseases	References
Sandhoff disease	GAD: 15345116
Tay-Sachs disease	GAD: 7551830
GM2 gangliosidoses	KEGG: H00124
Spinal muscular atrophy	GAD: 7898712
Amyotrophic lateral sclerosis (ALS)	GAD: 12811781
Huntington's disease	GAD: 11180612
Azoospermia	MIK: 16776631
Azoospermia	MIK: 15820478
Subacute G(M2) gangliosidosis	GAD: 9603435
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Azoospermia	MIK: 15820478

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
16776631	Azoospermia			33 (15 normozoospermic controls, 18 patients with secretory azoospermia)	Male infertility
15820478	Azoospermia				Male infertility	Hex A Hex B
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881