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Gene: ALAS2 (5'-aminolevulinate synthase 2) Homo sapiens
Symbol: ALAS2
Name: 5'-aminolevulinate synthase 2
Description: The product of this gene specifies an erythroid-specific mitochondrially located enzyme. The encoded protein catalyzes the first step in the heme biosynthetic pathway. Defects in this gene cause X-linked pyridoxine-responsive sideroblastic anemia. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: 5-aminolevulinate synthase, erythroid-specific, mitochondrial; 5-aminolevulinic acid synthase 2; ALAS-E; ALASE; aminolevulinate, delta-, synthase 2; aminolevulinic acid synthase 2; ANH1; ASB; delta-ALA synthase 2; delta-ALA synthetase; delta-aminolevulinate synthase 2; FLJ93603; SIDBA1; XLDPP; XLEPP; XLSA
Mus musculus (house mouse) : Alas2 (aminolevulinic acid synthase 2, erythroid)  MGI  Alliance
Rattus norvegicus (Norway rat) : Alas2 (5'-aminolevulinate synthase 2)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Alas2 (5'-aminolevulinate synthase 2)
Pan paniscus (bonobo/pygmy chimpanzee) : ALAS2 (5'-aminolevulinate synthase 2)
Canis lupus familiaris (dog) : ALAS2 (5'-aminolevulinate synthase 2)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Alas2 (5'-aminolevulinate synthase 2)
Sus scrofa (pig) : ALAS2 (5'-aminolevulinate synthase 2)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Human AssemblyChrPosition (strand)SourceGenome Browsers
GRCh38X55,009,055 - 55,031,064 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X55,035,488 - 55,057,497 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X55,052,213 - 55,074,136 (-)NCBINCBI36hg18NCBI36
Build 34X54,918,512 - 54,940,432NCBI
CeleraX58,870,631 - 58,892,640 (-)NCBI
Cytogenetic MapXp11.21NCBI
HuRefX52,086,432 - 52,108,437 (-)NCBIHuRef
CHM1_1X55,025,527 - 55,047,534 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)

Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Molecular Pathway Annotations
Phenotype Annotations
References - curated
References - uncurated


Comparative Map Data
Position Markers
miRNA Target Status


Nucleotide Sequences
Protein Sequences
Clinical Variants

Additional Information

External Database Links
Nomenclature History
More on ALAS2
Alliance Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 736755
Created: 2004-02-06
Species: Homo sapiens
Last Modified: 2019-07-09
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.