IFT57 intraflagellar transport 57
Gene ID: 55081, updated on 2-Nov-2024Gene type: protein coding
Also known as: HIPPI; OFD18; MHS4R2; ESRRBL1
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- Go to complete Gene record for IFT57
- Go to Variation Viewer for IFT57 variants
Summary
Predicted to enable DNA binding activity. Acts upstream of or within activation of cysteine-type endopeptidase activity involved in apoptotic process; apoptotic process; and regulation of apoptotic process. Located in ciliary base and photoreceptor connecting cilium. Part of intraciliary transport particle B. Implicated in orofaciodigital syndrome XVIII. [provided by Alliance of Genome Resources, Nov 2024]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Orofaciodigital syndrome 18 | See labs |
Genomic context
- Location:
- 3q13.12-q13.13
- Sequence:
- Chromosome: 3; NC_000003.12 (108160812..108222424, complement)
- Total number of exons:
- 11
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for IFT57 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
- Variation ViewerRelated Variants
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