ALAS1 wt Allele

Preferred Label : ALAS1 wt Allele;

NCIt synonyms : ALAS3; Aminolevulinate, Delta-, Synthase 1 wt Allele; ALAS; OK/SW-cl.121; MIG4; ALAS, Housekeeping Type Gene; ALASH;

NCIt definition : Human ALAS1 wild-type allele is located in the vicinity of 3p21.1 and is approximately 16 kb in length. This allele, which encodes 5-aminolevulinate synthase, nonspecific, mitochondrial protein, is involved in both heme biosynthesis and lipid metabolism.;

GenBank Accession Number : X56351;

Details

Origin ID

C111873;

UMLS CUI

C3812156;

Automatic exact mappings (from CISMeF team)
- Delta-aminolevulinate synthase 1 [OMIM gene]
- suprarostral ala [UBERON concept]
OMIM relation
- Delta-aminolevulinate synthase 1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 3p21.1 [NCIt concept]
gene_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_plays_role_in_process
- Biosynthetic Process [NCIt concept]
- Lipid Metabolic Process [NCIt concept]

Keyword's position in hierarchy(ies) :

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