SYNE1 wt Allele

Preferred Label : SYNE1 wt Allele;

NCIt synonyms : MYNE1; Spectrin Repeat Containing, Nuclear Envelope 1 Gene; CPG2; Synaptic Nuclei Expressed Gene 1; Nesp1; EDMD4; ARCA1; KIAA1756; CPG2 Full Length Gene; Nuclear Envelope Spectrin Repeat-1 Gene; 8B; Chromosome 6 Open Reading Frame 98 Gene; Spectrin Repeat Containing Nuclear Envelope Protein 1 wt Allele; C6orf98; dJ45H2.2; SCAR8; KIAA1262; KIAA0796; KASH1;

NCIt definition : Human SYNE1 wild-type allele is located in the vicinity of 6q25.2 and is approximately 516 kb in length. This allele, which encodes nesprin-1 protein, is involved in the subcellular position of the nucleus. Mutation of the gene is associated with autosomal recessive spinocerebellar ataxia 8.;

NCI Metathesaurus CUI : CL552098;

GenBank Accession Number : AB018339;

Details

Origin ID

C150328;

UMLS CUI

C4723872;

Automatic exact mappings (from CISMeF team)
- Autosomal recessive ataxia, Beauce type [ORDO Disease]
- Spectrin repeat-containing nuclear envelope protein 1 [OMIM gene]
- autosomal dominant Emery-Dreifuss muscular dystrophy 4 [DO Concept]
- autosomal recessive cerebellar ataxia type 1 [MeSH Supplementary Concept]
- autosomal recessive spinocerebellar ataxia 8 [DO Concept]
- spectrin repeat containing nuclear envelope protein 1 [ORDO Gene]
OMIM relation
- Spectrin repeat-containing nuclear envelope protein 1 [OMIM gene]
See also inter- (CISMeF)
- Emery-dreifuss muscular dystrophy 4, autosomal dominant [OMIM Phenotype]
- Spinocerebellar ataxia, autosomal recessive 8 [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_plays_role_in_process
- Regulation of Cell Shape [NCIt concept]

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