ALAS2 wt Allele

Preferred Label : ALAS2 wt Allele;

NCIt synonyms : Delta-ALA Synthetase Gene; XLSA; Erythroid-Specific Delta-Aminolevulinate Synthase Gene; ALASE; Sideroblastic/Hypochromic Anemia Gene; 5'-Aminolevulinate Synthase 2 wt Allele; ALAS, Erythroid Gene; XLDPP; ASB; XLEPP; ALAS-E; ANH1; Aminolevulinate, Delta-, Synthase 2 Gene; Aminolevulinate, Delta-, Synthase 2 (Sideroblastic/Hypochromic Anemia) Gene; 5-Aminolevulinate Synthase, Erythroid-Specific Gene; SIDBA1;

NCIt definition : Human ALAS2 wild-type allele is located in the vicinity of Xp11.21 and is approximately 22 kb in length. This allele, which encodes 5-aminolevulinate synthase, erythroid-specific, mitochondrial protein, is involved in heme formation during erythropoiesis. Mutation of the gene is associated with X-linked sideroblastic anemia 1 and X-linked dominant erythropoietic protoporphyria.;

NCI Metathesaurus CUI : CL1905473;

GenBank Accession Number : NM_000032;

Details

Origin ID

C191911;

UMLS CUI

C5780744;

OMIM relation
- Delta-aminolevulinate synthase 2 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_is_element_in_pathway
- Glycine, Serine and Threonine Metabolism Pathway [NCIt concept]
- Porphyrin and Chlorophyll Metabolism Pathway [NCIt concept]
gene_plays_role_in_process
- Biosynthetic Process [NCIt concept]
- Lipid Metabolic Process [NCIt concept]

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