RAI1 wt Allele

Preferred Label : RAI1 wt Allele;

NCIt synonyms : Retinoic Acid Induced 1 wt Allele; KIAA1820; Retinoic Acid-Induced Gene 1; SMS; DKFZP434A139; Smith-Magenis Syndrome Chromosome Region Gene; MGC12824; Retinoic Acid-Inducible 1 Gene; SMCR;

NCIt definition : Human RAI1 wild-type allele is located in the vicinity of 17p11.2 and is approximately 130 kb in length. This allele, which encodes retinoic acid-induced protein 1, plays roles in transcriptional regulation, development, control of body weight and complex behavioral responses. Mutations in this gene are associated with Smith-Magenis Syndrome.;

NCIt note : transcriptional regulator, may be important for embryonal and postnatal development. May play roles in craniofacial development, control of body weight and complex behavioral responses.;

GenBank Accession Number : AJ230819;

Details

Origin ID

C75454;

UMLS CUI

C2698933;

Automatic exact mappings (from CISMeF team)
- G protein-coupled receptor, family C, group 5, member a [OMIM gene]
- Retinoic acid-induced gene 1 [OMIM gene]
- Smith-magenis syndrome [OMIM Phenotype]
- Spermine synthase [OMIM gene]
- Stiff person spectrum disorder [ORDO Disease]
- electronic communication [Q-code]
- retinoic acid induced 1 [ORDO Gene]
- spermine synthase [ORDO Gene]
- text messaging [MeSH Descriptor]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 17p11.2 [NCIt concept]
gene_plays_role_in_process
- DNA Binding [NCIt concept]
- Maturation [NCIt concept]
- Transcription [NCIt concept]
- Transcriptional Regulation [NCIt concept]

Keyword's position in hierarchy(ies) :

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