DYM wt Allele - CISMeF

Preferred Label : DYM wt Allele;

NCIt synonyms : DMC; Dymeclin wt Allele; FLJ20071; SMC;

NCIt definition : Human DYM wild-type allele is located in the vicinity of 18q21.1 and is approximately 425 kb in length. This allele, which encodes dymeclin protein, plays a role in the organization the Golgi apparatus. Mutation of the gene is associated with Dyggve-Melchior-Clausen syndrome and Smith-McCort dysplasia.;

NCI Metathesaurus CUI : CL1915471;

GenBank Accession Number : AK000078;

Details

Origin ID

C201082;

UMLS CUI

C5848993;

OMIM relation
- Dymeclin [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_plays_role_in_process
- Cellular Secretion [NCIt concept]
- Nervous System Development [NCIt concept]
- Skeletal Development [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients