UBA5 wt Allele

Preferred Label : UBA5 wt Allele;

NCIt synonyms : UBA5, Ubiquitin-Activating Enzyme E1 Homolog Gene; Ubiquitin-Like Modifier Activating Enzyme 5 Gene; Ubiquitin-Activating Enzyme E1-Domain Containing 1 Gene; UBA5, Ubiquitin-Activating Enzyme E1 Homolog (Yeast) Gene; THIFP1; Ubiquitin-Activating Enzyme E1 Domain-Containing 1 Gene; Ubiquitin Like Modifier Activating Enzyme 5 wt Allele; UBE1DC1; SCAR24; DEE44; EIEE44; FLJ23251;

NCIt definition : Human UBA5 wild-type allele is located in the vicinity of 3q22.1 and is approximately 25 kb in length. This allele, which encodes ubiquitin-like modifier-activating enzyme 5 protein, plays a role in the modification of proteins with ubiquitin-fold modifier-1 (ufmylation). Mutations of the gene are associated with developmental and epileptic encephalopathy 44 and autosomal recessive spinocerebellar ataxia 24.;

GenBank Accession Number : AY253672;

Détails

Origin ID

C213435;

OMIM relation
- Ubiquitin-like modifier-activating enzyme 5 [OMIM gene]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 3q22.1 [NCIt concept]
gene_plays_role_in_process
- Cellular Stress Response [NCIt concept]
- Erythrocyte Differentiation [NCIt concept]
- Megakaryocyte Differentiation [NCIt concept]
- Post-Translational Modification [NCIt concept]

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