HEXA (hexosaminidase subunit alpha)

Gene Basic Information

Gene Basic Information

symbol:
HEXA
locus group:
protein-coding gene
location:
15q23
gene_family:
alias symbol:
None
alias name:
Tay Sachs disease|GM2 gangliosidos…
entrez id:
3073
ensembl gene id:
ENSG00000213614
ucsc gene id:
uc002aun.5
refseq accession:
NM_000520
hgnc_id:
HGNC:4878
approved reserved:
2001-06-22

Chromosome Location

Chromosome Location

15q23

Gene Summary

Gene Summary

HEXA基因编码β-己糖胺酶A的α亚基，与HEXB基因编码的β亚基共同形成β-己糖胺酶A酶复合物。该酶在溶酶体中发挥关键作用，负责分解神经节苷脂GM2和其他含有N-乙酰己糖胺的糖脂。HEXA基因突变会导致β-己糖胺酶A功能缺陷，使GM2神经节苷脂在神经元中异常积累，引发泰-萨克斯病（Tay-Sachs disease），这是一种常染色体隐性遗传的溶酶体贮积症。泰-萨克斯病主要表现为进行性神经退行性变，包括运动障碍、智力衰退、失明和早夭。HEXA属于己糖胺酶基因家族，该家族成员（HEXA和HEXB）均参与糖脂代谢，通过水解糖链末端的N-乙酰己糖胺残基参与细胞膜成分的循环。HEXA基因过表达在正常情况下较为罕见，但可能影响神经节苷脂代谢平衡；而表达降低或缺失则直接导致酶活性丧失，引发GM2神经节苷脂贮积。目前已发现超过100种HEXA基因突变类型，包括错义突变、无义突变和剪切位点突变等，这些突变通过不同机制影响酶活性或稳定性。某些HEXA基因变异（如假缺陷等位基因）可能导致酶活性部分保留，引起非典型或迟发型泰-萨克斯病。HEXA基因检测可用于携带者筛查和产前诊断，特别是在德系犹太人中该基因突变携带率较高（约1/27）。HEXA与HEXB基因产物还能组合形成β-己糖胺酶B（αβ二聚体）和S（αα二聚体）同工酶，进一步扩展其在糖脂代谢中的作用范围。

ChineseEnglish

This gene encodes the alpha 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. Alpha subunit gene mutations lead to Tay-Sachs disease (GM2-gangliosidosis type I). [provided by RefSeq, Jul 2009]

OMIM entry for HEXA     Wikipedia entry for HEXA

Gene Sequence

Gene Sequence

Nucleotide sequence of HEXA:[NCBI]
Loading Gene Browser...

Encoded Protein

Encoded Protein

Protein Sequence
1MTSSRLWFSL LLAAAFAGRA TALWPWPQNF QTSDQRYVLY
41PNNFQFQYDV SSAAQPGCSV LDEAFQRYRD LLFGSGSWPR
81 PYLTGKRHT LEKNVLVVSV VTPGCNQLPT LESVENYTLT
121INDDQCLLLS ETVWGALRGL ETFSQLVWKS AEGTFFINKT
161E IEDFPRFP HRGLLLDTSR HYLPLSSILD TLDVMAYNKL
201NVFHWHLVDD PSFPYESFTF PELMRKGSYN PVTHIYTAQD
241VK EVIEYAR LRGIRVLAEF DTPGHTLSWG PGIPGLLTPC
281YSGSEPSGTF GPVNPSLNNT YEFMSTFFLE VSSVFPDFYL
321HLG GDEVDF TCWKSNPEIQ DFMRKKGFGE DFKQLESFYI
361QTLLDIVSSY GKGYVVWQEV FDNKVKIQPD TIIQVWREDI
401PVNY MKELE LVTKAGFRAL LSAPWYLNRI SYGPDWKDFY
441IVEPLAFEGT PEQKALVIGG EACMWGEYVD NTNLVPRLWP
481RAGAV AERL WSNKLTSDLT FAYERLSHFR CELLRRGVQA
521QPLNVGFCEQ EFEQT
结构预测来自 AlphaFold DB（UniProt: P06865），颜色表示 pLDDT 置信度（深蓝高、黄橙低）。

Gene Variants

Gene Variants

SNP variants of HEXA:           Showing partial SNPs
rs1800428       rs3743230       rs4777505       rs4777506       rs4777507       rs7170481       rs12904366       rs16956866       rs34496117       rs34736306       rs58016062       rs61731240       rs61732485       rs61747114       rs71133988       rs74789549       rs75192611      

Gene Expression

Gene Expression

Tissue expression of HEXA:    [UniProt]

Gene expression across tissues

Gene Primers

Gene Primers

Forward Primer
Forward Tm
Reverse Primer
Reverse Tm
Score
ACCTCACAGGTCTTTCTCTG
59
CTTGAGTCCTGGAGTTCGA
59
TTACCTCACAGGGAAACGG
59
AGGAAGCTGGTTACATCCAG
60
AGAATGTGTTGGTTGTCTCTG
59
ACAGGGATGCAATTCTCCA
59
CTTCCGCTGTGAATTGCTG
60
TCACAGAAGCCTACATTGAGG
60
ATGACCAGTGTTTACTCCTCTC
60
GATAAAGAATGTGCCCTCAGC
60
TGAGTCTTTACTCTGCCTCTC
59
GATAAAGAATGTGCCCTCAGC
60
TCCTTACCTCACAGGTTGG
59
CAACCAACACATTCTTCTCCA
59
TCAAGATTCACCCTAGAGCC
59
GACATCGTACCGACTCGAG
60
TTACCTCACAGGGAAACGG
59
AGGAAGCTGGTTACATCCAG
60
CTTTATGAGGAAGAAAGGCTTCG
60
GATTGTGTCTGGCTGAATGTC
60

Transcription Factors

Transcription Factors

      No data available

Gene Ontology

Subcellular localization of HEXA (and its protein):

[UniProt]     [GenomeNet]

" d="M482.414,245.296c3.539,4.293,4.455,10.009,0.202,11 c-4.244,0.996-4.983-10.983-8.293-8.438c-5.271,4.08,9.834,12.271,5.144,17.287c-3.717,3.607-6.172-5.75-10.839-1.976 c-4.673,3.776,6.781,7.299,2.831,11.326c-4.354,4.045-6.979-1.449-9.837-5.517c-1.193-1.742-2.059-3.851-3.595-2.748 c-1.516,1.078-1.854,1.795-0.938,3.666c2.374,4.854,9.235,10.119,5.156,12.535c-5.636,3.346-5.044-8.871-9.426-7.574 c-4.388,1.291,2.557,10.66-1.245,11.141c-4.089,0.545-3.483-10.239-6.979-8.575c-2.522,1.206-0.929,3.071-0.938,4.899 c0.004,1.32-0.964,3.6-2.372,4.062c-3.593,1.171-8.544-1.065-10.251-3.59c-6.04-8.93,0.396-15.997,4.639-7.015 c3.023,4.642,5.182,0.834,2.839-2.219c-1.032-1.354-4.309-5.901-0.781-7.252c2.904-1.113,4.271,1.941,5.985,4.592 c2.61,4.016,5.485,0.117,3.031-3.414c-1.828-2.633-2.74-3.803,3.156-7.42c6.405-4.369,6.52,3.869,10.077,0.646 c2.309-1.832-4.783-5.149,0.06-8.995c2.896-2.293,5.18,6.207,7.961,3.516c3.523-2.737-7.717-7.369,0.117-11.736 C473.413,240.77,480.519,242.891,482.414,245.296z"/> Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
  • plasma membrane
  • cytoplasm
  • extracellular
  • golgi
  • vesicle
  • cytoskeleton
  • endoplasmic reticulum
  • nucleus
  • endosome
  • lysosome
  • mitochondrion

Gene Ontology (GO) terms for HEXA:

GO ID
Protein
Source DB
GO:0004563
H3BP20 (UniProtKB)
IEA
GO:0005975
H3BP20 (UniProtKB)
IEA
GO:0004563
H3BS10 (UniProtKB)
IEA
GO:0005975
H3BS10 (UniProtKB)
IEA
GO:0004563
H3BTD4 (UniProtKB)
IEA
GO:0005975
H3BTD4 (UniProtKB)
IEA
GO:0004563
H3BU85 (UniProtKB)
IEA
GO:0005975
H3BU85 (UniProtKB)
IEA
GO:0004563
P06865 (UniProtKB)
TAS
GO:0004563
P06865 (UniProtKB)
TAS
GO:0004563
P06865 (UniProtKB)
TAS
GO:0004563
P06865 (UniProtKB)
TAS
GO:0004563
P06865 (UniProtKB)
TAS
GO:0005975
P06865 (UniProtKB)
IEA
GO:0006024
P06865 (UniProtKB)
IDA
GO:0006687
P06865 (UniProtKB)
TAS
GO:0008375
P06865 (UniProtKB)
IDA
GO:0016020
P06865 (UniProtKB)
IDA
GO:0030207
P06865 (UniProtKB)
TAS
GO:0030214
P06865 (UniProtKB)
TAS
GO:0042340
P06865 (UniProtKB)
TAS
GO:0042582
P06865 (UniProtKB)
IDA
GO:0043202
P06865 (UniProtKB)
TAS
GO:0043202
P06865 (UniProtKB)
TAS
GO:0043202
P06865 (UniProtKB)
TAS
GO:0043202
P06865 (UniProtKB)
TAS
GO:0043202
P06865 (UniProtKB)
TAS
GO:0046982
P06865 (UniProtKB)
IDA
GO:0070062
P06865 (UniProtKB)
IDA
GO:0070062
P06865 (UniProtKB)
IDA

Related microRNA

Related microRNA

microRNAs potentially regulating HEXA:     

Gene Interactions

Gene Interactions

String
BioGrid
IntAct
mentha
Reactome
Loading…
Interacting Gene Interaction Source/Score

Gene Pathways

Gene Pathways

Related Diseases

Related Diseases

Disease Score NofPmids NofSnps Source
Disease Score NofPmids NofSnps Source
Tay-Sachs Disease 0.470660457 75 47 BeFree_CLINVAR_CTD_human_GAD_LHGDN_MGD_UNIPROT
Tay-Sachs Disease, Juvenile 0.120271442 1 1 BeFree_CLINVAR
Intellectual Disability 0.12 1 0 CTD_human
Tay-Sachs Disease, Variant B1 0.12 0 6 CLINVAR
Gm2-Gangliosidosis, Variant B1 0.12 0 1 CLINVAR
Sandhoff Disease 0.005981653 13 0 BeFree_LHGDN
Rheumatoid Arthritis 0.00272435 1 0 LHGDN
HIV Infections 0.00272435 1 0 LHGDN
Glioma 0.00272435 1 0 LHGDN
Huntington Disease 0.002367032 1 0 GAD

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