WDR45 wt Allele

Preferred Label : WDR45 wt Allele;

NCIt synonyms : WD Repeat Domain, X-Linked 1 Gene; WIPI-4; JM5; Neurodegeneration with Brain Iron Accumulation 5 Gene; WDRXI4; WDRX1; WD45 Repeat Protein Interacting with Phosphoinositides 4 Gene; NBIA4; NBIA5; WIPI4; WD Repeat Domain 45 wt Allele;

NCIt definition : Human WDR45 wild-type allele is located in the vicinity of Xp11.23 and is approximately 27 kb in length. This allele, which encodes WD repeat domain phosphoinositide-interacting protein 4, is involved in phosphoinositide binding and autophagy. Mutations in the gene are associated with neurodegeneration with brain iron accumulation 5.;

GenBank Accession Number : BC003037;

Détails

Origin ID

C213573;

OMIM relation
- Wd repeat-containing protein 45 [OMIM gene]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- Xp11.23 [NCIt concept]
gene_is_element_in_pathway
- Autophagy Regulation Pathway [NCIt concept]
gene_plays_role_in_process
- Autophagy [NCIt concept]
- Cellular Stress Response [NCIt concept]
- Intracellular Transport [NCIt concept]
- Ligand Binding [NCIt concept]
- Subcellular Protein Targeting [NCIt concept]
- Transport Process [NCIt concept]

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