SOX9 wt Allele

Preferred Label : SOX9 wt Allele;

NCIt synonyms : CMPD1; CMD1; SRY-Box 9 wt Allele; SRA1; SRY-Related HMG-Box Gene 9; SRY (Sex Determining Region Y)-Box 9 (Campomelic Dysplasia, Autosomal Sex-Reversal) Gene; SRXY10; SRXX2;

NCIt definition : Human SOX9 wild-type allele is located within 17q24.3-q25.1 and is approximately 5 kb in length. This allele, which encodes transcription factor SOX-9, plays roles in transcriptional regulation, osteogenesis, chondrogenesis and control of testis development. Mutations in this gene are associated with campomelic dysplasia.;

GenBank Accession Number : NM_000346;

Details

Origin ID

C75517;

UMLS CUI

C2699255;

OMIM relation
- Sry-box 9 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 17q24.3-q25.1 [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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