SUFU wt Allele

Preferred Label : SUFU wt Allele;

NCIt synonyms : SUFUH; UNQ650/PRO1280; SUFUXL; Suppressor of Fused, Drosophila, Homolog of Gene; RP11-47A8.1; PRO1280; Suppressor of Fused Homolog Gene; SUFU Negative Regulator of Hedgehog Signaling wt Allele; Suppressor of Fused Homolog (Drosophila) Gene; Negative Regulator of Hedgehog Signaling Gene; JBTS32;

NCIt definition : Human SUFU wild-type allele is located in the vicinity of 10q24.32 and is approximately 130 kb in length. This allele, which encodes suppressor of fused homolog protein, is involved in the negative regulation of both hedgehog signaling and transcription. Mutation of the gene is associated with medulloblastoma.;

GenBank Accession Number : AF175770;

Details

Origin ID

C97820;

UMLS CUI

C3273644;

OMIM relation
- Sufu negative regulator of hedgehog signaling [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
- 10q24.32 [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Nevoid Basal Cell Carcinoma Syndrome [NCIt concept]
gene_is_element_in_pathway
- Basal Cell Carcinoma Pathway [NCIt concept]
- Hedgehog Signaling Events Mediated by Gli Family Proteins [NCIt concept]
- Hedgehog Signaling Pathway [NCIt concept]
- Sonic Hedgehog Pathway [NCIt concept]
gene_plays_role_in_process
- Signal Transduction [NCIt concept]
- Skeletal Development [NCIt concept]
- Transcriptional Regulation [NCIt concept]
- Transcriptional Repression [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients