SOX3 wt Allele

Preferred Label : SOX3 wt Allele;

NCIt synonyms : SRY (Sex Determining Region Y)-Box 3 wt Allele;

NCIt definition : Human SRY-Box 3 wild-type allele is located in the vicinity of Xq27.1 and is approximately 3 kb in length. This allele, which encodes transcription factor SOX-3, plays a role in inhibition of neuronal differentiation in the pituitary and hypothalamus. Mutations in this gene result in X-linked mental retardation, and may correlate also with isolated growth hormone deficiency.;

GenBank Accession Number : NM_005634;

Details

Origin ID

C75600;

UMLS CUI

C2699253;

OMIM relation
- Sry-box 3 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- Xq27.1 [NCIt concept]
gene_plays_role_in_process
- DNA Binding [NCIt concept]
- Transcriptional Regulation [NCIt concept]

Keyword's position in hierarchy(ies) :

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