Statements (49)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alsoKnownAs |
ALAS-E
aminolevulinate, delta-, synthase 2 |
| gptkbp:alternativeSplicing |
yes
|
| gptkbp:associatedWith |
ALAS1
X-linked sideroblastic anemia congenital sideroblastic anemia pyridoxine-responsive anemia |
| gptkbp:biologicalProcess |
mitochondrial enzyme
|
| gptkbp:clinicalTrialPhase |
genetic testing for sideroblastic anemia
|
| gptkbp:cofactor |
gptkb:pyridoxal_phosphate
|
| gptkbp:discoveredIn |
1986
|
| gptkbp:encodes |
5-aminolevulinate synthase, erythroid-specific
|
| gptkbp:Entrez_Gene_ID |
212
ENSG00000158578 |
| gptkbp:expressedIn |
erythroid cells
|
| gptkbp:fullName |
5'-aminolevulinate synthase 2
|
| gptkbp:function |
catalyzes the first step in heme biosynthesis
|
| gptkbp:geneType |
protein-coding
|
| gptkbp:HGNC_ID |
405
|
| https://www.w3.org/2000/01/rdf-schema#label |
ALAS2
|
| gptkbp:inheritance |
X-linked
|
| gptkbp:length |
587 amino acids
|
| gptkbp:locatedInOrganism |
gptkb:Homo_sapiens
|
| gptkbp:locatedOnChromosome |
gptkb:Xp11.21
X |
| gptkbp:mRNA |
NM_000032
|
| gptkbp:mutationAssociatedWith |
nonsense
deletion insertion missense duplication frameshift splice site causes X-linked sideroblastic anemia |
| gptkbp:OMIM |
301300
|
| gptkbp:orthologInMouse |
Alas2
|
| gptkbp:orthologInZebrafish |
alas2
|
| gptkbp:pathway |
heme biosynthesis
|
| gptkbp:product |
NP_000023
|
| gptkbp:proteinFamily |
aminolevulinate synthase family
pyridoxal phosphate-dependent transferase domain |
| gptkbp:referenceGenome |
gptkb:GRCh38
|
| gptkbp:regulates |
gptkb:GATA1
erythroid-specific transcription factors |
| gptkbp:subcellularLocation |
mitochondrion
|
| gptkbp:UniProtID |
P22557
|
| gptkbp:bfsParent |
gptkb:GATA1
|
| gptkbp:bfsLayer |
7
|