AQP4 wt Allele

Preferred Label : AQP4 wt Allele;

NCIt synonyms : Aquaporin 4 wt Allele; MLC4; WCH4; hAQP4; MIWC;

NCIt definition : Human AQP4 wild-type allele is located in the vicinity of 18q11.2 and is approximately 14 kb in length. This allele, which encodes aquaporin-4 protein, plays a role in water transport and homeostasis in the brain. Mutation in the gene is associated with remitting megalencephalic leukoencephalopathy with subcortical cysts 4 (MLC4).;

NCIt note : The AQP4 gene encodes various isoforms resulting from alternative splicing, use of alternative in-frame translation initiation codons and readthrough transcripts that may use of an alternative in-frame translation termination codons. (EntrezGene);

GenBank Accession Number : U63622;

Details

Origin ID

C200644;

OMIM relation
- Aquaporin 4 [OMIM gene]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 18q11.2 [NCIt concept]
gene_is_element_in_pathway
- Vasopressin-Regulated Water Reabsorption Pathway [NCIt concept]
gene_plays_role_in_process
- Homeostatic Process [NCIt concept]
- Ligand Binding [NCIt concept]
- Transmembrane Transport [NCIt concept]
- Transport Process [NCIt concept]

Keyword's position in hierarchy(ies) :

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