5-Aminolevulinate Synthase, Erythroid-Specific, Mitochondrial

Preferred Label : 5-Aminolevulinate Synthase, Erythroid-Specific, Mitochondrial;

NCIt synonyms : 5'-Aminolevulinate Synthase 2; Erythroid-Specific Delta-Aminolevulinate Synthase; ALAS-E; ALAS2; 5-Aminolevulinic Acid Synthase 2; EC 2.3.1.37; Delta-Aminolevulinate Synthase 2; Delta-ALA Synthase 2;

NCIt definition : 5-aminolevulinate synthase, erythroid-specific, mitochondrial (587 aa, 65 kDa) is encoded by the human ALAS2 gene. This protein plays a role in the condensation of succinyl-CoA and glycine to form aminolevulinic acid.;

Details

Origin ID

C191914;

UMLS CUI

C1433253;

OMIM relation
- Delta-aminolevulinate synthase 2 [OMIM gene]
Semantic type(s)
- Amino Acid, Peptide, or Protein [UMLS semantic type]
- Enzyme [UMLS semantic type]
UMLS correspondences (same concept)
- ALAS2 protein, human [MeSH Supplementary Concept]
- ALAS2 protein, human [MeSH concept]
gene_encodes_gene_product
- ALAS2 Gene [NCIt concept]
- Enzyme Gene [NCIt concept]
- Transferase Gene [NCIt concept]
gene_product_has_associated_anatomy
- Erythrocyte [NCIt concept]
- Inner Mitochondrial Membrane [NCIt concept]
gene_product_has_structural_domain_or_motif
- Substrate Interaction Domain [NCIt concept]
gene_product_is_element_in_pathway
- Glycine, Serine and Threonine Metabolism Pathway [NCIt concept]
- Porphyrin and Chlorophyll Metabolism Pathway [NCIt concept]
gene_product_plays_role_in_biological_process
- Biosynthetic Process [NCIt concept]
- Lipid Metabolic Process [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients