5-Aminolevulinate Synthase, Nonspecific, Mitochondrial

Preferred Label : 5-Aminolevulinate Synthase, Nonspecific, Mitochondrial;

NCIt synonyms : ALAS1; 5-Aminolevulinic Acid Synthase 1; ALAS-H; EC 2.3.1.37; Delta-Aminolevulinate Synthase 1; Delta-ALA Synthase 1; Migration-Inducing Protein 4;

NCIt definition : 5-aminolevulinate synthase, nonspecific, mitochondrial (640 aa, 71 kDa) is encoded by the human ALAS1 gene. This protein plays a role in both protoporphyrin biosynthesis and lipid metabolism.;

Details

Origin ID

C111874;

UMLS CUI

C3815531;

Automatic exact mappings (from CISMeF team)
- Delta-aminolevulinate synthase 1 [OMIM gene]
OMIM relation
- Delta-aminolevulinate synthase 1 [OMIM gene]
Semantic type(s)
- Amino Acid, Peptide, or Protein [UMLS semantic type]
- Enzyme [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_encodes_gene_product
- ALAS1 Gene [NCIt concept]
- Enzyme Gene [NCIt concept]
- Transferase Gene [NCIt concept]
gene_product_has_associated_anatomy
- Mitochondrial Matrix [NCIt concept]
gene_product_has_structural_domain_or_motif
- Substrate Interaction Domain [NCIt concept]
gene_product_is_element_in_pathway
- FOXA2 and FOXA3 Transcription Factor Signaling Pathway [NCIt concept]
- Glycine, Serine and Threonine Metabolism Pathway [NCIt concept]
- Hemoglobin Chaperone 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