SHOX wt Allele

Preferred Label : SHOX wt Allele;

NCIt synonyms : Short Stature Homeobox wt Allele;

NCIt definition : Human SHOX wild-type allele is located in the vicinity of Yp11.3 and within Xpter-p22.32 and is approximately 35 kb in length. This allele, which encodes short stature homeobox protein, plays roles in both regulation of transcription and regulation of growth. Mutations in this gene are associated with Leri-Weill dyschondrosteosis.;

GenBank Accession Number : U82668; NM_000451;

Details

Origin ID

C75404;

UMLS CUI

C2699245;

OMIM relation
- Short stature homeobox, y-linked [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- Xpter-p22.32 [NCIt concept]
- Yp11.3 [NCIt concept]
gene_plays_role_in_process
- Cell Differentiation Process [NCIt concept]
- Cell Growth [NCIt concept]
- DNA Binding [NCIt concept]
- Developmental Process [NCIt concept]
- Transcriptional Regulation [NCIt concept]

Keyword's position in hierarchy(ies) :

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