ADSS1 wt Allele

Preferred Label : ADSS1 wt Allele;

NCIt synonyms : Adenylosuccinate Synthetase-Like 1 Gene; Adenylosuccinate Synthase 1 wt Allele; FLJ38602; MPD5; ADSSL1; Adenylosuccinate Synthase Like 1 Gene;

NCIt definition : Human ADSS1 wild-type allele is located in the vicinity of 14q32.33 and is approximately 23 kb in length. This allele, which encodes adenylosuccinate synthetase isozyme 1 protein, plays a role in the purine nucleotide cycle to synthesize adenosine monophosphate (AMP). Mutations in the gene are associated with adolescent onset distal myopathy 5.;

GenBank Accession Number : AK095921;

Détails

Origin ID

C213920;

OMIM relation
- Adenylosuccinate synthase 1 [OMIM gene]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 14q32.33 [NCIt concept]
gene_is_element_in_pathway
- Alanine, Aspartate and Glutamate Metabolism Pathway [NCIt concept]
- Nucleotide Metabolism Pathway [NCIt concept]
- Purine Metabolism Pathway [NCIt concept]
gene_plays_role_in_process
- GTP Binding [NCIt concept]
- Nucleotide Metabolic Process [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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