Gene:
SMPD1
sphingomyelin phosphodiesterase 1, acid lysosomal

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:  acid sphingomyelinase
Alternate Symbols:  ASM
PharmGKB Accession Id: PA35969

Details

Cytogenetic Location: chr11 : p15.4 - p15.1
GP mRNA Boundary: chr11 : 6411644 - 6416228
GP Gene Boundary: chr11 : 6401644 - 6419228
Strand: plus
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.

Publications related to SMPD1: 2

No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Imprinting at the SMPD1 locus: implications for acid sphingomyelinase-deficient Niemann-Pick disease. American journal of human genetics. 2006. Simonaro Calogera M, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
L-carnitine prevents doxorubicin-induced apoptosis of cardiac myocytes: role of inhibition of ceramide generation. The FASEB journal : official publication of the Federation of American Societies for Experimental Biology. 1999. Andrieu-Abadie N, et al. PubMed

LinkOuts

UniProtKB:
ASM_HUMAN (P17405)
Q8IUN0_HUMAN (Q8IUN0)
Ensembl:
ENSG00000166311
GenAtlas:
SMPD1
GeneCard:
SMPD1
MutDB:
SMPD1
ALFRED:
LO131813R
HuGE:
SMPD1
Comparative Toxicogenomics Database:
6609
ModBase:
P17405
HumanCyc Gene:
HS09373
HGNC:
11120

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