Gene:
ALAS1
aminolevulinate, delta-, synthase 1

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 has no annotated drug labels with pharmacogenomic information for this . If you know of a drug label with PGx, send us a message.

PharmGKB contains no Clinical Variants that meet the highest level of criteria.

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:  ALAS; ALAS3; aminolevulinate, delta-, synthase 1
Alternate Symbols:  None
PharmGKB Accession Id: PA24688

Details

Cytogenetic Location: chr3 : p21.1 - p21.2
GP mRNA Boundary: chr3 : 52232116 - 52248343
GP Gene Boundary: chr3 : 52222116 - 52251343
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.

PharmGKB Curated Pathways

Pathways created internally by PharmGKB based primarily on literature evidence.

PharmGKB contains no curated pathways for this gene. If you would like to volunteer to work on a pathway, please let us know.

External Pathways

Links to non-PharmGKB pathways.

  1. FOXA2 and FOXA3 transcription factor networks - (Pathway Interaction Database NCI-Nature Curated)
  2. hemoglobins chaperone - (BioCarta via Pathway Interaction Database)

Publications related to ALAS1: 1

No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Nuclear pregnane x receptor and constitutive androstane receptor regulate overlapping but distinct sets of genes involved in xenobiotic detoxification. Molecular pharmacology. 2002. Maglich Jodi M, et al. PubMed

LinkOuts

Entrez Gene:
211
OMIM:
125290
UCSC Genome Browser:
NM_000688
RefSeq RNA:
NM_000688
NM_199166
RefSeq Protein:
NP_000679
NP_954635
RefSeq DNA:
AC_000046
AC_000135
NC_000003
NT_022517
NW_001838877
NW_921651
UniProtKB:
HEM1_HUMAN (P13196)
Q5JAM2_HUMAN (Q5JAM2)
Ensembl:
ENSG00000023330
GenAtlas:
ALAS1
GeneCard:
ALAS1
MutDB:
ALAS1
ALFRED:
LO216905X
HuGE:
ALAS1
Comparative Toxicogenomics Database:
211
ModBase:
P13196
HumanCyc Gene:
HS00424
HGNC:
396

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