| Nomenclature | Genomic Location |
| Symbol | Hexa | Chromosome | X |
| Name | Hexosaminidase A | Linkage map | unknown |
| Species | Dracomimus familiaris | Genome Coordinates | ChrX: 64 Mbp |
| Molecular Function |
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Responsible for the degradation of GM2 gangliosides, and a variety of other molecules containing
terminal N-acetyl hexosamines, in the brain and other tissues. The form B is active against certain
oligosaccharides. The form S has no measurable activity.
Molecular Function Terms:
binding
ion binding
cation binding
catalytic activity
hydrolase activity
hydrolase activity, acting on glycosyl bonds
hydrolase activity, hydrolyzing O-glycosyl compounds
hexosaminidase activity
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| Human Disease Association |
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Defects in HEXA are the cause of GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]; also known as
Tay-Sachs disease. GM2-gangliosidosis is an autosomal recessive lysosomal storage disease marked by
the accumulation of GM2 gangliosides in the neuronal cells. GM2G1 is characterized by GM2 gangliosides
accumulation in the absence of HEXA activity, leading to neurodegeneration and, in the infantile
form, death in early childhood. GM2G1 has an increased incidence among Ashkenazi Jews and French
Canadians in eastern Quebec. It exists in several forms: infantile (most common and most severe),
juvenile and adult (late onset).
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1 ATGGCGGCGGCGGGAGCGTGTCCTGGGCTGCTGCTCCTCTTCCTTCTCTCGATTTTGGGC
61 TCCAGGGCGTCGGTCTGGCCCCAGCCGAGGTCTCTGAGTGTGTCTCCGCTGGGAGGCTGT
121 CTCCTTAACTCGCGACGATTCCGCTTCGGTTACAGCAAGGCCTCGGCGGTGGGTCCCGGC
181 TGCTCCGTCCTGGACCAGGCCTTCCAACGATACTGGAAGCTCCTCTTCCCCTTGGGACGC
241 AGGGAGGCCGCTTTGGGCCATCCTTCCTTTTCTCAGCTCCAGAGGAAAGCAGCTCAACTT
301 TTATATCTTCTCGTCTCCGTTACAGAGCCAGGTTGCGATGGCTATCCTTCGCTGGACTCC
361 CAAGAGAATTATAAGCTGACAGTTTCAGAGAAGCAGATGCTGCTGACAGCAGATACTGTC
421 TGGGGAGCCCTCCGAGGGTTAGAAACCTTCTCCCAGCTTCCACGGAGCGATGAGTATGGG
481 ACTTTCTATGTAAACAAGACCGATGTTGTGGACTTCCCCCGCTTTCCTCACCGAGGGGTT
541 TTGCTGGACACGTCTCGCCATTACCTGCCTTTGAATGTCATCCTGGAGACCCTGGATGCC
601 ATGGCCTACAACAAATTCAATGTGTTTCACTGGCATATAGTGGACGACCCCTCCTTTCCC
661 TATGAGAGCCTGGCGTTCCCGGATCTCAGCAGGAAGGGGGCCTACGACCCTGCCACTCAT
721 GTGTACACAACTAGTGATGTCAAGACTGTTCTTGAGCATGCCCGGTTGCGTGGCATCAGG
781 GTGATCCCGGAATTCGACACTCCTGGCCACACCCAATCTTGGGGTCGAGGTATTCCTGGC
841 TTGCTGACTCCCTGCTATGCAGGCCAGAAGCCCTCTGGAACCTATGGGCCCGTCAACCCA
901 ATCCTCAATGCAACATATGACATCATGACCAAGTTTTTTGACGAAGTTAGCCTAGTGTTT
961 CCGGACTTCTACATACACCTGGGAGGAGACGAGGTTGACTTCACATGCTGGAAGTCTAAT
1021 CCAGACATCAAGAAATTCATGCAGGAAATGGGGTTTGGCACAAACTTCACCATGTTGGAG
1081 TCCTTCTACATCCAAAGGCTGCTGGATATTGTCTCTTTCTACAGCAAGGGCTATGTGGTA
1141 TGGCAGGAGGTCTTTGATAACCAAGTGAAGGTGAAGCCTGATACTGTTATTCACGTGTGG
1201 AAGCAGAATGACGGGACGTACCCGGACGAGACGGCTCGTGTCACCAAAGCCGGCTATCGA
1261 GCCCTGCTCTCTGCTCCTTGGTATCTGAACATCATCTCTTACGGCCAGGACTGGGTGAAG
1321 ATTTACGAGGTGGAGCCTCTCGCCTTTGAAGGCAGCCCAGAGCAGAAGAAACTGGTGATC
1381 GGCGGGGAGGCCTGTATGTGGGGCGAATACGTGGATGTGACCAACTTGACCCCAAGACTC
1441 TGGCCTAGAGCTGGAGCCGTAGCAGAGAGATTATGGAGCAACCAGACGGTCCGGAACGTG
1501 GAAGATGCCTATGCGAGACTGGCAGACTTCCGATGCCTTCTGCTCAGACGTGGAATCCGG
1561 GCCGAGCCACTTTTCACAGGATACTGTGACCACGAATTCAGCATAGTTTGA
| Predicted Protein Product |
MAAAGACPGLLLLFLLSILGSRASVWPQPRSLSVSPLGGCLLNSRRFRFGYSKASAVGPG
CSVLDQAFQRYWKLLFPLGRREAALGHPSFSQLQRKAAQLLYLLVSVTEPGCDGYPSLDS
QENYKLTVSEKQMLLTADTVWGALRGLETFSQLPRSDEYGTFYVNKTDVVDFPRFPHRGV
LLDTSRHYLPLNVILETLDAMAYNKFNVFHWHIVDDPSFPYESLAFPDLSRKGAYDPATH
VYTTSDVKTVLEHARLRGIRVIPEFDTPGHTQSWGRGIPGLLTPCYAGQKPSGTYGPVNP
ILNATYDIMTKFFDEVSLVFPDFYIHLGGDEVDFTCWKSNPDIKKFMQEMGFGTNFTMLE
SFYIQRLLDIVSFYSKGYVVWQEVFDNQVKVKPDTVIHVWKQNDGTYPDETARVTKAGYR
ALLSAPWYLNIISYGQDWVKIYEVEPLAFEGSPEQKKLVIGGEACMWGEYVDVTNLTPRL
WPRAGAVAERLWSNQTVRNVEDAYARLADFRCLLLRRGIRAEPLFTGYCDHEFSIV
| Protein Alignment to Mouse |
sp|P29416|HEXA_MOUSE Beta-hexosaminidase subunit alpha OS=Mus musculus GN=Hexa
PE=2 SV=1
MGI:96073 Hexa hexosaminidase A (Chr 9)
Length = 528
Score = 1732 (614.8 bits), Expect = 4.2e-179, P = 4.2e-179
Identities = 322/511 (63%), Positives = 393/511 (76%)
Query: 24 SVWPQPRSLSVSPLGGCLLNSRRFRFGYSKASAVGPGCSVLDQAFQRYWKLLFPLGRREA 83
++WP P+ + L + F+F Y +SA GC VLD+AF+RY LLF G
Sbjct: 22 ALWPWPQYIQTYHRRYTLYPNN-FQFRYHVSSAAQGGCVVLDEAFRRYRNLLFGSG---- 76
Query: 84 ALGHPSFSQLQRKAAQLLYLLVSVTEPGCDGYPSLDSQENYKLTVSEKQMLLTADTVWGA 143
+ PSFS Q+ + + L+VSV C+ +P+L+S ENY LT+++ Q LL ++TVWGA
Sbjct: 77 SWPRPSFSNKQQTLGKNI-LVVSVVTAECNEFPNLESVENYTLTINDDQCLLASETVWGA 135
Query: 144 LRGLETFSQLPRSDEYGTFYVNKTDVVDFPRFPHRGVLLDTSRHYLPLNVILETLDAMAY 203
LRGLETFSQL GTF++NKT + DFPRFPHRGVLLDTSRHYLPL+ IL+TLD MAY
Sbjct: 136 LRGLETFSQLVWKSAEGTFFINKTKIKDFPRFPHRGVLLDTSRHYLPLSSILDTLDVMAY 195
Query: 204 NKFNVFHWHIVDDPSFPYESLAFPDLSRKGAYDPATHVYTTSDVKTVLEHARLRGIRVIP 263
NKFNVFHWH+VDD SFPYES FP+L+RKG+++P TH+YT DVK V+E+ARLRGIRV+
Sbjct: 196 NKFNVFHWHLVDDSSFPYESFTFPELTRKGSFNPVTHIYTAQDVKEVIEYARLRGIRVLA 255
Query: 264 EFDTPGHTQSWGRGIPGLLTPCYAGQKPSGTYGPVNPILNATYDIMTKFFDEVSLVFPDF 323
EFDTPGHT SWG G PGLLTPCY+G SGT+GPVNP LN+TYD M+ F E+S VFPDF
Sbjct: 256 EFDTPGHTLSWGPGAPGLLTPCYSGSHLSGTFGPVNPSLNSTYDFMSTLFLEISSVFPDF 315
Query: 324 YIHLGGDEVDFTCWKSNPDIKKFMQEMGFGTNFTMLESFYIQRLLDIVSFYSKGYVVWQE 383
Y+HLGGDEVDFTCWKSNP+I+ FM++ GF T+F LESFYIQ LLDIVS Y KGYVVWQE
Sbjct: 316 YLHLGGDEVDFTCWKSNPNIQAFMKKKGF-TDFKQLESFYIQTLLDIVSDYDKGYVVWQE 374
Query: 384 VFDNQVKVKPDTVIHVWKQNDGT-YPDETARVTKAGYRALLSAPWYLNIISYGQDWVKIY 442
VFDN+VKV+PDT+I VW++ Y E +T+AG+RALLSAPWYLN + YG DW +Y
Sbjct: 375 VFDNKVKVRPDTIIQVWREEMPVEYMLEMQDITRAGFRALLSAPWYLNRVKYGPDWKDMY 434
Query: 443 EVEPLAFEGSPEQKKLVIGGEACMWGEYVDVTNLTPRLWPRAGAVAERLWSNQTVRNVED 502
+VEPLAF G+PEQK LVIGGEACMWGEYVD TNL PRLWPRAGAVAERLWS+ N++
Sbjct: 435 KVEPLAFHGTPEQKALVIGGEACMWGEYVDSTNLVPRLWPRAGAVAERLWSSNLTTNIDF 494
Query: 503 AYARLADFRCLLLRRGIRAEPLFTGYCDHEF 533
A+ RL+ FRC L+RRGI+A+P+ GYC+ EF
Sbjct: 495 AFKRLSHFRCELVRRGIQAQPISVGYCEQEF 525
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