STIL wt Allele

Preferred Label : STIL wt Allele;

NCIt synonyms : RP1-18D14.8; MCPH7; STIL Centriolar Assembly Protein wt Allele; SIL; SCL/TAL1 Interrupting Locus Gene; SCL-Interrupting Locus Gene; SCL/TAL1-Interrupting Locus Gene; TAL1 (SCL) Interrupting Locus Gene;

NCIt definition : Human STIL wild-type allele is located in the vicinity of 1p32 and is approximately 64 kb in length. This allele, which encodes SCL-interrupting locus protein, is involved in signaling that promotes cellular proliferation and modulates embryonic development. A chromosomal deletion at 1p32 between this gene and the TAL1 gene is associated with T-cell acute lymphoblastic leukemia. Mutation of the gene is associated with microcephaly primary type 7.;

GenBank Accession Number : M74558;

Details

Origin ID

C101127;

UMLS CUI

C3538862;

Automatic exact mappings (from CISMeF team)
- Microcephaly 7, primary, autosomal recessive [OMIM Phenotype]
- STIL centriolar assembly protein [ORDO Gene]
- Scl/tal1-interrupting locus [OMIM gene]
- Squamous intraepithelial lesion (morphologic abnormality) [SNOMED CT concept]
- clinical laboratory information systems [MeSH Descriptor]
- primary autosomal recessive microcephaly 7 [DO Concept]
OMIM relation
- Scl/tal1-interrupting locus [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
- 1p32 [NCIt concept]
gene_is_element_in_pathway
- Hedgehog Family-Mediated Signaling Pathway [NCIt concept]
gene_plays_role_in_process
- Cell Proliferation Regulatory Process [NCIt concept]
- Embryogenesis [NCIt concept]
- Intracellular Signaling Process [NCIt concept]
- Signal Transduction [NCIt concept]

Keyword's position in hierarchy(ies) :

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