ADNP wt Allele

Preferred Label : ADNP wt Allele;

NCIt synonyms : ADNP1; ADNP Homeobox 1 Gene; Activity Dependent Neuroprotector Homeobox wt Allele; Activity-Dependent Neuroprotector Gene; KIAA0784; MRD28; HVDAS;

NCIt definition : Human ADNP wild-type allele is located in the vicinity of 20q13.13 and is approximately 43 kb in length. This allele, which encodes activity-dependent neuroprotector homeobox protein, may play a role in vasoactive intestinal peptide-dependent neuroprotective responses. Mutation of the gene is associated with Helsmoortel-van der Aa syndrome.;

NCI Metathesaurus CUI : CL1799090;

GenBank Accession Number : AF250860;

Details

Origin ID

C190674;

UMLS CUI

C5780978;

OMIM relation
- Activity-dependent neuroprotector homeobox [OMIM gene]
See also inter- (CISMeF)
- ADNP syndrome [ORDO Disease]
- Helsmoortel-Van Der Aa Syndrome [DO Concept]
- Helsmoortel-van der aa syndrome [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
Validated automatic mappings to NTBT
- Activity-dependent neuroprotector homeobox [OMIM gene]
- activity dependent neuroprotector homeobox [ORDO Gene]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 20q13.13 [NCIt concept]
gene_plays_role_in_process
- Cell Differentiation Process [NCIt concept]
- DNA Binding [NCIt concept]
- Developmental Process [NCIt concept]
- Nervous System Development [NCIt concept]
- Transcriptional Regulation [NCIt concept]
- Tubulin Binding [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients