SEC23B wt Allele

Preferred Label : SEC23B wt Allele;

NCIt synonyms : Congenital Dyserythropoietic Anemia, Type II Gene; CDA-II; HEMPAS; CDAII; Sec23 Homolog B (S. cerevisiae) wt Allele; CDAN2; RP11-379J5.1;

NCIt definition : Human SEC23B wild-type allele is located in the vicinity of 20p11.23 and is approximately 54 kb in length. This allele, which encodes protein transport protein Sec23B, is involved in the transport of vesicles from the endoplasmic reticulum to the Golgi. Mutation of the gene is associated with congenital dyserythropoietic anemia type II.;

GenBank Accession Number : X97065;

Details

Origin ID

C97934;

UMLS CUI

C3273708;

Automatic exact mappings (from CISMeF team)
- Anemia, congenital dyserythropoietic, type II [OMIM Phenotype]
- Congenital dyserythropoietic anemia type II [ORDO Disease]
- Congenital dyserythropoietic anemia, type II (disorder) [SNOMED CT concept]
- Hexamethylphosphoramide [LOINC component]
- SEC23 homolog B, COPII coat complex component [ORDO Gene]
- anemia, dyserythropoietic, congenital [MeSH Descriptor]
- congenital dyserythropoietic anemia type II [DO Concept]
- hemin [MeSH Descriptor]
- hempa [MeSH concept]
- hempa [MeSH Descriptor]
OMIM relation
- Sec23 homolog b, coat complex II component [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Congenital Dyserythropoietic Anemia [NCIt concept]
gene_plays_role_in_process
- Golgi Targeting [NCIt concept]
- Intracellular Transport [NCIt concept]
- Ligand Binding [NCIt concept]
- Transport Process [NCIt concept]
- Vacuolar Protein Sorting [NCIt concept]

Keyword's position in hierarchy(ies) :

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