HOXB1 wt Allele

Preferred Label : HOXB1 wt Allele;

NCIt synonyms : HCFP3; Homeobox B1 wt Allele; Hox-2.9, Mouse, Homolog of Gene; Homeobox 2I Gene; Homeo Box B1 Gene; HOX2; Hox-2.9; HOX2I;

NCIt definition : Human HOXB1 wild-type allele is located in the vicinity of 17q21.32 and is approximately 2 kb in length. This allele, which encodes homeobox protein Hox-B1, plays a role in the the regulation of anterior-posterior axis polarity. Mutation of the gene is associated with hereditary congenital facial palsy 3.;

NCI Metathesaurus CUI : CL971016;

GenBank Accession Number : NM_002144;

Details

Origin ID

C162631;

UMLS CUI

C5202693;

Automatic exact mappings (from CISMeF team)
- Homeobox b1 [OMIM gene]
OMIM relation
- Homeobox b1 [OMIM gene]
See also inter- (CISMeF)
- Facial paresis, hereditary congenital, 3 [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 17q21.32 [NCIt concept]
gene_plays_role_in_process
- Cell Differentiation Process [NCIt concept]
- DNA Binding [NCIt concept]
- Developmental Process [NCIt concept]
- Pattern Formation [NCIt concept]
- Transcriptional Regulation [NCIt concept]

Keyword's position in hierarchy(ies) :

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