PDX1 wt Allele

Preferred Label : PDX1 wt Allele;

NCIt synonyms : Pancreatic and Duodenal Homeobox 1 wt Allele; PAGEN1; IPF1; IUF1; GSF; MODY4; Insulin Promoter Factor 1, Homeodomain Transcription Factor Gene; IDX-1; PDX-1; STF-1;

NCIt definition : Human PDX1 wild-type allele is located in the vicinity of 13q12.1 and is approximately 6 kb in length. This allele, which encodes pancreas/duodenum homeobox protein 1, is involved in transcriptional regulation of insulin and other pancreatic genes. Mutation of the gene is associated with pancreatic agenesis, susceptibility to early-onset insulin-dependent diabetes mellitus, and maturity onset diabetes of the young type 4.;

GenBank Accession Number : AF035260;

Details

Origin ID

C118248;

UMLS CUI

C3889249;

Automatic exact mappings (from CISMeF team)
- Cystatin a [OMIM gene]
- Maturity-Onset diabetes of the young, type 4 [MeSH Supplementary Concept]
- Maturity-onset diabetes of the young, type 4 [OMIM Phenotype]
- Maturity-onset diabetes of the young, type 4 (disorder) [SNOMED CT concept]
- Pancreas/duodenum homeobox protein 1 [OMIM gene]
- Pancreatic agenesis 1 [OMIM Phenotype]
- Pyruvate dehydrogenase complex, component X [OMIM gene]
- glomerulosclerosis, focal segmental [MeSH Descriptor]
- maturity-onset diabetes of the young type 4 [DO Concept]
- pancreatic and duodenal homeobox 1 [ORDO Gene]
- pyruvate dehydrogenase complex component X [ORDO Gene]
OMIM relation
- Pancreas/duodenum homeobox protein 1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_is_element_in_pathway
- FOXA2 and FOXA3 Transcription Factor Signaling Pathway [NCIt concept]
- Maturity Onset Diabetes of the Young Pathway [NCIt concept]
- Type II Diabetes Mellitus Pathway [NCIt concept]
gene_plays_role_in_process
- Carbohydrate Metabolic Process [NCIt concept]
- Cell Differentiation Process [NCIt concept]
- DNA Binding [NCIt concept]
- Developmental Process [NCIt concept]
- Transcriptional Activation [NCIt concept]
- Transcriptional Regulation [NCIt concept]

Keyword's position in hierarchy(ies) :

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