SNAP29 wt Allele

Preferred Label : SNAP29 wt Allele;

NCIt synonyms : CEDNIK; Synaptosome Associated Protein 29kDa Gene; Synaptosomal-Associated Protein, 29kDa Gene; Synaptosomal-Associated Protein, 29kD Gene; Synaptosomal-Associated Protein, 29-kD Gene; Synaptosome Associated Protein 29 wt Allele; SNAP-29;

NCIt definition : Human SNAP29 wild-type allele is located in the vicinity of 22q11.21 and is approximately 32 kb in length. This allele, which encodes synaptosomal-associated protein 29, is involved in subcellular transport and membrane fusion. Mutation of the gene is associated with cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome (CEDNIK).;

NCI Metathesaurus CUI : CL1662459;

GenBank Accession Number : AF115436;

Details

Origin ID

C179729;

UMLS CUI

C5551118;

OMIM relation
- Synaptosomal-associated protein, 29-kd [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 22q11.21 [NCIt concept]
gene_is_element_in_pathway
- Autophagy Regulation Pathway [NCIt concept]
- SNARE Proteins Vesicular Transport Pathway [NCIt concept]
gene_plays_role_in_process
- Autophagy [NCIt concept]
- Intracellular Transport [NCIt concept]
- Ligand Binding [NCIt concept]
- Membrane Fusion Activity [NCIt concept]
- Transport Process [NCIt concept]

Keyword's position in hierarchy(ies) :

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