TBC1D7 wt Allele

Preferred Label : TBC1D7 wt Allele;

NCIt synonyms : TS Complex Subunit 3 Gene; FLJ32666; TBC1 Domain Family, Member 7 Gene; TBC1 Domain Family Member 7 wt Allele; HSPC239; MGCPH; TBC7; dJ257A7.3; PIG51;

NCIt definition : Human TBC1D7 wild-type allele is located in the vicinity of 6p24.1 and is approximately 62 kb in length. This allele, which encodes TBC1 domain family member 7 protein, is involved in GTPase-activating protein activity and the subsequent inhibition of the mTORC1-dependent signaling cascade. Mutation of the gene is associated with autosomal recessive macrocephaly/megalencephaly syndrome.;

NCI Metathesaurus CUI : CL1905166;

GenBank Accession Number : AF151073;

Details

Origin ID

C191809;

UMLS CUI

C5780742;

OMIM relation
- Tbc1 domain family, member 7 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 6p24.1 [NCIt concept]
gene_is_element_in_pathway
- mTOR Signaling Pathway KEGG [NCIt concept]
gene_plays_role_in_process
- Intracellular Signaling Process [NCIt concept]
- Microtubule Process [NCIt concept]
- Protein-Protein Interaction [NCIt concept]
- Signal Transduction [NCIt concept]

Keyword's position in hierarchy(ies) :

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