SRY wt Allele - CISMeF

Preferred Label : SRY wt Allele;

NCIt synonyms : TDF; TDY; Sex Determining Region Y wt Allele;

NCIt definition : Human SRY wild-type allele is located in the vicinity of Yp11.3 and is approximately 1 kb in length. This allele, which encodes sex determining region Y protein, plays a fundamental role in testis formation in humans, and may also play a role in regulation of transcription. Mutations in this gene may result in gonadal dysgenesis.;

GenBank Accession Number : NM_003140;

Details

Origin ID

C75528;

UMLS CUI

C2699256;

OMIM relation
- Sex-determining region y [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- Yp11.3 [NCIt concept]
gene_is_element_in_pathway
- Androgen Receptor Regulation Pathway [NCIt concept]
gene_plays_role_in_process
- DNA Binding [NCIt concept]
- Maturation [NCIt concept]
- Sexual Maturation [NCIt concept]
- Transcriptional Regulation [NCIt concept]

Keyword's position in hierarchy(ies) :

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