IMPDH1 wt Allele

Preferred Label : IMPDH1 wt Allele;

NCIt synonyms : IMP (Inosine Monophosphate) Dehydrogenase 1 wt Allele; IMPD1; IMPD;

NCIt definition : Human IMPDH1 wild-type allele is located within 7q31.3-q32 and is approximately 18 kb in length. This allele, which encodes inosine-5'-monophosphate dehydrogenase 1 protein, is involved in de novo synthesis of guanine nucleotides. Defects in the IMPDH1 gene cause autosomal dominant retinitis pigmentosa type 10.;

NCIt note : The IMPDH1 gene may be involved in both malignant transformation and tumor progression.;

GenBank Accession Number : NM_000883;

Details

Origin ID

C50886;

UMLS CUI

C1708441;

OMIM relation
- Imp dehydrogenase 1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_has_physical_location
- 7: 127644257-127626283 [NCIt concept]
gene_in_chromosomal_location
- 7q31.3-q32 [NCIt concept]
gene_is_element_in_pathway
- Drug Metabolism by Non-CYP450 Enzymes Pathway [NCIt concept]
- Purine Metabolism Pathway [NCIt concept]
gene_plays_role_in_process
- Nucleotide Metabolic Process [NCIt concept]
- Oxidation [NCIt concept]
- Oxidation/Reduction [NCIt concept]

Keyword's position in hierarchy(ies) :

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