Gene:
HEXA
hexosaminidase A (alpha polypeptide)

PharmGKB contains no dosing guidelines for this . To report known genotype-based dosing guidelines, or if you are interested in developing guidelines, click here.

PharmGKB contains no drug labels with pharmacogenomic information for this . To report a drug label with PGx, click here.

Disclaimer: The PharmGKB's clinical annotations reflect expert consensus based on clinical evidence and peer-reviewed literature available at the time they are written and are intended only to assist clinicians in decision-making and to identify questions for further research. New evidence may have emerged since the time an annotation was submitted to the PharmGKB. The annotations are limited in scope and are not applicable to interventions or diseases that are not specifically identified.

The annotations do not account for individual variations among patients, and cannot be considered inclusive of all proper methods of care or exclusive of other treatments. It remains the responsibility of the health-care provider to determine the best course of treatment for a patient. Adherence to any guideline is voluntary, with the ultimate determination regarding its application to be made solely by the clinician and the patient. PharmGKB assumes no responsibility for any injury or damage to persons or property arising out of or related to any use of the PharmGKB clinical annotations, or for any errors or omissions.

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This is a non-comprehensive list of genetic tests with pharmacogenetics relevance, typically submitted by the manufacturer and manually curated by PharmGKB. The information listed is provided for educational purposes only and does not constitute an endorsement of any listed test or manufacturer.

A more complete listing of genetic tests is found at the Genetic Testing Registry (GTR).

PGx Test Variants Assayed Related Drugs?

Overview

Alternate Names:  GM2 gangliosidosis; Tay Sachs disease
Alternate Symbols:  None
PharmGKB Accession Id: PA29256

Details

Cytogenetic Location: chr15 : q24.1 - q23
GP mRNA Boundary: chr15 : 72635778 - 72668520
GP Gene Boundary: chr15 : 72632778 - 72678520
Strand: minus
The mRNA boundaries are calculated using the gene's default feature set from NCBI, mapped onto the UCSC Golden Path. PharmGKB sets gene boundaries by expanding the mRNA boundaries by no less than 10,000 bases upstream (5') and 3,000 bases downstream (3') to allow for potential regulatory regions.

LinkOuts

Entrez Gene:
3073
OMIM:
272800
606869
UCSC Genome Browser:
NM_000520
RefSeq RNA:
NM_000520
RefSeq Protein:
NP_000511
RefSeq DNA:
AC_000058
AC_000147
NC_000015
NG_009017
NT_010194
NW_001838218
NW_925884
UniProtKB:
HEXA_HUMAN (P06865)
Ensembl:
ENSG00000213614
GenAtlas:
HEXA
GeneCard:
HEXA
MutDB:
HEXA
ALFRED:
LO023470Q
HuGE:
HEXA
Comparative Toxicogenomics Database:
3073
ModBase:
P06865
HumanCyc Gene:
HS06726
HGNC:
4878

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