NIPA1 wt Allele

Preferred Label : NIPA1 wt Allele;

NCIt synonyms : Nonimprinted Gene In Prader-Willi Syndrome/Angelman Syndrome Chromosome Region 1 Gene; MGC35570; FSP3; MGC102724; SPG6; Spastic Paraplegia 6 (Autosomal Dominant) Gene; NIPA Magnesium Transporter 1 wt Allele; SLC57A1; Non Imprinted In Prader-Willi/Angelman Syndrome 1 Gene;

NCIt definition : Human NIPA1 wild-type allele is located in the vicinity of 15q11.2 and is approximately 43 kb in length. This allele, which encodes non-imprinted in magnesium transporter NIPA1 protein, may play a role in nervous system development. Mutations in the gene are associated with autosomal dominant spastic paraplegia 6.;

NCIt note : The NIPA1 gene lies in between breakpoint hotspots BP1 and BP2 of the Prader-Willi/Angelman syndromes deletion region on chromosome 15. (OMIM);

GenBank Accession Number : BK001020;

Details

Origin ID

C75737;

UMLS CUI

C2698410;

False automatic mappings
- Autosomal dominant spastic paraplegia type 6 [ORDO Disease]
OMIM relation
- Nipa magnesium transporter 1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 15q11.2 [NCIt concept]
gene_plays_role_in_process
- Ion Transport Process [NCIt concept]
- Ligand Binding [NCIt concept]
- Neural Development [NCIt concept]
- Transmembrane Transport [NCIt concept]
- Transport Process [NCIt concept]

Keyword's position in hierarchy(ies) :

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