TRPS1 wt Allele

Preferred Label : TRPS1 wt Allele;

NCIt synonyms : GC79; MGC134928; Trichorhinophalangeal Syndrome I wt Allele;

NCIt definition : Human TRPS1 wild-type allele is located in the vicinity of 8q24.12 and is approximately 261 kb in length. This allele, which encodes zinc finger transcription factor Trps1 protein, plays a role in regulation of bone and hair development. Mutations in this gene are associated with Type 1 trichorhinophalangeal syndrome.;

NCIt note : The trichorhinophalangeal syndrome type II, or Langer-Giedion syndrome, is a contiguous gene syndrome due to loss of functional copies of both the TRPS1 and EXT1 genes. (Hum Mol Genet. 1995; 4: 31-6.);

GenBank Accession Number : NM_014112;

Details

Origin ID

C75523;

UMLS CUI

C2699875;

OMIM relation
- Zinc finger transcription factor trps1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 8q24.12 [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Trichorhinophalangeal Syndrome Type I [NCIt concept]
gene_plays_role_in_process
- DNA Binding [NCIt concept]
- Maturation [NCIt concept]
- Transcriptional Regulation [NCIt concept]

Keyword's position in hierarchy(ies) :

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