ATAD1 wt Allele

Preferred Label : ATAD1 wt Allele;

NCIt synonyms : AFDC1; FLJ14600; hATAD1; THORASE; ATPase Family, AAA Domain-Containing, Member 1 Gene; MSP1; HKPX4; FNP001; ATPase Family AAA Domain Containing 1 wt Allele;

NCIt definition : Human ATAD1 wild-type allele is located in the vicinity of 10q23.31 and is approximately 90 kb in length. This allele, which encodes outer mitochondrial transmembrane helix translocase protein, plays a role in ensuring the proper intracellular localization of proteins. Mutations in the gene are associated with hyperekplexia 4.;

NCI Metathesaurus CUI : CL1922615;

GenBank Accession Number : AL834370;

Details

Origin ID

C203424;

UMLS CUI

C5890843;

OMIM relation
- Atpase family, aaa domain-containing, member 1 [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
- 10q23.31 [NCIt concept]
gene_plays_role_in_process
- ATP Hydrolysis [NCIt concept]
- Intracellular Transport [NCIt concept]
- Ligand Binding [NCIt concept]
- Lipid Transport [NCIt concept]
- Nucleotide Metabolic Process [NCIt concept]
- Subcellular Protein Targeting [NCIt concept]
- Transport Process [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients