NAPB wt Allele

Preferred Label : NAPB wt Allele;

NCIt synonyms : SNAP-BETA; DEE107; Soluble-NSF Attachment Protein, Beta Gene; Beta Soluble NSF Attachment Protein Gene; SNAPB; N-Ethylmaleimide-Sensitive Factor Attachment Protein, Beta Gene; SNAP, Beta Gene; NSF Attachment Protein Beta wt Allele;

NCIt definition : Human NAPB wild-type allele is located in the vicinity of 20p11.21 and is approximately 47 kb in length. This allele, which encodes beta-soluble NSF attachment protein, plays a role in vesicular transport between the endoplasmic reticulum and the Golgi apparatus. Mutation of the gene is associated with developmental and epileptic encephalopathy 107.;

NCI Metathesaurus CUI : CL1926495;

GenBank Accession Number : AK022817;

Details

Origin ID

C203858;

UMLS CUI

C5890933;

OMIM relation
- Nsf attachment protein beta [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_plays_role_in_process
- Intracellular Transport [NCIt concept]
- Ligand Binding [NCIt concept]
- Neuronal Transmission [NCIt concept]
- Subcellular Protein Targeting [NCIt concept]
- Transport Process [NCIt concept]

Keyword's position in hierarchy(ies) :

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