TRIP11 thyroid hormone receptor interactor 11
Gene ID: 9321, updated on 11-Apr-2024Gene type: protein coding
Also known as: ODCD; ACG1A; CEV14; ODCD1; GMAP210; TRIP-11; TRIP230; GMAP-210
- See all available tests in GTR for this gene
- Go to complete Gene record for TRIP11
- Go to Variation Viewer for TRIP11 variants
Summary
This gene was identified based on the interaction of its protein product with thyroid hormone receptor beta. This protein is associated with the Golgi apparatus. The N-terminal region of the protein binds Golgi membranes and the C-terminal region binds the minus ends of microtubules; thus, the protein is thought to play a role in assembly and maintenance of the Golgi ribbon structure around the centrosome. Mutations in this gene cause achondrogenesis type IA.[provided by RefSeq, Mar 2010]
Associated conditions
See all available tests in GTR for this gene
Description | Tests |
---|---|
Achondrogenesis, type IA | See labs |
Goldblatt syndrome | See labs |
Hundreds of variants clustered in genomic loci and biological pathways affect human height. GeneReviews: Not available | |
Identification of ten loci associated with height highlights new biological pathways in human growth. GeneReviews: Not available | |
Many sequence variants affecting diversity of adult human height. GeneReviews: Not available | |
Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci. GeneReviews: Not available |
Genomic context
- Location:
- 14q32.12
- Sequence:
- Chromosome: 14; NC_000014.9 (91965991..92040059, complement)
- Total number of exons:
- 22
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | Variation Viewer for TRIP11 variants |
Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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