Selected-GenAtlas references | SOURCE | GeneCards | NCBI Gene | Swiss-Prot | Orphanet | Ensembl |
HGNC | UniGene | Nucleotide | OMIM | UCSC |
Home Page |
FLASH GENE |
Symbol | HEXA | contributors: mct/npt - updated : 22-01-2010 |
HGNC name | hexosaminidase A (alpha polypeptide) |
HGNC id | 4878 |
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Corresponding disease |
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Location | 15q23 Physical location : 72.635.778 - 72.668.520 | ||
Synonym name | |||
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Synonym symbol(s) | MGC99608 | ||
EC.number | 3.2.1.52 |
DNA |
TYPE | functioning gene |
STRUCTURE | 32.74 kb 14 Exon(s) |
10 Kb 5' upstream gene genomic sequence study |
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MAPPING | cloned | Y | linked | N | status | confirmed |
RNA |
TRANSCRIPTS | type | messenger |
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EXPRESSION |
Type | ubiquitous |
constitutive of |
expressed in | (based on citations) | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
organ(s) |
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tissue |
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cells |
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cell lineage
cell lines
| fluid/secretion
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at STAGE |
physiological period | pregnancy |
Text | placenta |
PROTEIN |
PHYSICAL PROPERTIES
STRUCTURE
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motifs/domains
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conjugated | GlycoP |
mono polymer | heteromer , dimer , trimer |
isoforms | Precursor | zymogen |
HOMOLOGY |
interspecies | ortholog to murine Hexa |
ortholog to rattus Hexa | |
homolog to drosophila Hexo2 |
Homologene |
FAMILY |
CATEGORY | enzyme |
basic FUNCTION | |
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CELLULAR PROCESS |
PHYSIOLOGICAL PROCESS |
PATHWAY |
metabolism | carbohydrate , lipid/lipoprotein |
signaling |
a component | |
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INTERACTION |
DNA |
RNA |
small molecule |
protein |
cell & other |
REGULATION |
Other | targeted to the lysosome by M6P receptor mediated pathway |
ASSOCIATED DISORDERS |
corresponding disease(s) | TSD |
related resource | Hexosaminidase A, Tay-Sachs Disease
Tay Sachs Disease at GeneDis |
Susceptibility |
Variant & Polymorphism
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Candidate gene
Marker
| Therapy target
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ANIMAL & CELL MODELS |