Hexosaminidase A

Alternative Names

  • Beta-Hexosaminidase A
  • HEXA

Associated Diseases

Tay-Sachs Disease
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OMIM Number

606869

NCBI Gene ID

3073

Uniprot ID

P06865

Length

35,558 bases

No. of Exons

14

No. of isoforms

2

Protein Name

Beta-hexosaminidase subunit alpha

Molecular Mass

60703 Da

Amino Acid Count

529

Genomic Location

chr15:72,340,919-72,376,476

Gene Map Locus
15q23

Description

The beta-hexosaminidase A protein is an enzyme present in the lysosomes that plays an important role in breaking down GM2 gangliosides. The the alpha subunit of the protein is coded for by the HEXA gene. Although both alpha and beta subunits are required for proper functioning of the enzyme, the alpha subunit is the one that is capable of carrying out the actual hydrolysis of GM2 gangliosides.

Defects in the HEXA gene have been shown to cause Tay-Sachs disease, a condition characterized by abnormal accumulation of GM2 gangliosides in neuronal cells on the brain and spinal cord. 

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_000520.5:c.1177C>TIraqNC_000015.10:g.72346680G>APathogenicNG_009017.2:g.34500C>T; NM_000520.5:c.1177C>T ; NP_000511.2:p.Arg393Ter1219079633905
NM_000520.5:c.1277_1278insTATCIraq; MoroccoNC_000015.10:g.72346580_72346583dupPathogenicPathogenicNG_009017.2:g.34597_34600dup; NM_000520.5:c.1277_1278insTATC ; NP_000511.2:p.Tyr427IlefsTer53879063093889
NM_000520.5:c.1351C>GIraqNC_000015.10:g.72346305G>CUncertain SignificancePathogenicNG_009017.2:g.34875C>G; NM_000520.5:c.1351C>G ; NP_000511.2:p.Leu451Val289408713942
NM_000520.5:c.1421+1G>CMoroccoNC_000015.10:g.72346234C>GPathogenicNG_009017.2:g.34946G>C; NM_000520.5:c.1421+1G>C ; NP_000511.2:p.?1473246773890
NM_000520.5:c.1444G>AMoroccoNC_000015.10:g.72345528C>TLikely Pathogenic, PathogenicNG_009017.2:g.35652G>A; NM_000520.5:c.1444G>A ; NP_000511.2:p.Glu482Lys1219079523892
NM_000520.5:c.1510delCIraqNC_000015.10:g.72345463delPathogenicNG_009017.2:g.35718del; NM_000520.5:c.1510delC ; NP_000511.2:p.Arg504AlafsTer57970444333894
NM_000520.5:c.1511G>AKuwait; Lebanon; Saudi...NC_000015.10:g.72345461C>TLikely Pathogenic, PathogenicPathogenicTay-Sachs DiseaseNG_009017.2:g.35719G>A; NM_000520.5:c.1511G>A ; NP_000511.2:p.Arg504His1219079553895
NM_000520.5:c.1528C>TSaudi ArabiaNC_000015.10:g.72344139G>ALikely Pathogenic, PathogenicPathogenicTay-Sachs DiseaseNG_009017.2:g.37041C>T; NM_000520.5:c.1528C>T ; NP_000511.2:p.Arg510Ter786204585188954
NM_000520.5:c.496C>GSyriaNC_000015.10:g.72353142G>CPathogenicTay-Sachs DiseaseNG_009017.2:g.28038C>G; NM_000520.5:c.496C>G ; NP_000511.2:p.Arg166Gly
NM_000520.5:c.498delCSyriaNC_000015.10:g.72353140delPathogenicNG_009017.2:g.28040del; NM_000520.5:c.498delC ; NP_000511.2:p.Pro168LeufsTer31
NM_000520.5:c.509G>AIraq; MoroccoNC_000015.10:g.72353129C>TLikely Pathogenic, PathogenicNG_009017.2:g.28051G>A; NM_000520.5:c.509G>A ; NP_000511.2:p.Arg170Gln1219079573900
NM_000520.5:c.533G>APalestineNC_000015.10:g.72353105C>TPathogenicPathogenicTay-Sachs DiseaseNG_009017.2:g.28075G>A; NM_000520.5:c.533G>A ; NP_000511.2:p.Arg178His289417703896
NM_000520.5:c.540C>GMoroccoNC_000015.10:g.72353098G>CPathogenicPathogenicTay-Sachs DiseaseNG_009017.2:g.28082C>G; NM_000520.5:c.540C>G ; NP_000511.2:p.Tyr180Ter1219079693919
NM_000520.5:c.571-2A>GMoroccoNC_000015.10:g.72351236T>CNG_009017.2:g.29944A>G; NM_000520.5:c.571-2A>G ; NP_000511.2:p.?
NM_000520.5:c.749G>TIraq; LebanonNC_000015.10:g.72350574C>AUncertain SignificancePathogenicTay-Sachs DiseaseNG_009017.2:g.30606G>T; NM_000520.5:c.749G>T ; NP_000511.2:p.Gly250Val121907959557210
NM_000520.5:c.78G>APalestine; Saudi Arabi...NC_000015.10:g.72375895C>TPathogenicPathogenicTay-Sachs DiseaseNG_009017.2:g.5285G>A; NM_000520.5:c.78G>A ; NP_000511.2:p.Trp26Ter1219079643911
NM_000520.5:c.805G>AIraqNC_000015.10:g.72350518C>TLikely Pathogenic, PathogenicPathogenicNG_009017.2:g.30662G>A; NM_000520.5:c.805G>A; NP_000511.2:p.Gly269Ser1219079543898
NM_000520.5:c.910_912delTTCIraq; MoroccoNC_000015.10:g.72349153_72349155delLikely PathogenicPathogenicTay-Sachs DiseaseNG_009017.2:g.32030_32032del; NM_000520.5:c.910_912delTTC ; NP_000511.2:p.Phe305del121907960188812
NM_000520.6:c.2T>CUnited Arab EmiratesNC_000015.10:g.72375971A>GLikely Pathogenic, PathogenicPathogenicTay-Sachs DiseaseNG_009017.2:g.5209T>C; NM_000520.6:c.2T>C; NP_000511.2:p.Met1Thr786204721189126
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