TULP1 TUB like protein 1
Gene ID: 7287, updated on 2-Nov-2024Gene type: protein coding
Also known as: RP14; LCA15; TUBL1
- See all available tests in GTR for this gene
- Go to complete Gene record for TULP1
- Go to Variation Viewer for TULP1 variants
Summary
This gene encodes a member of the tubby-like gene family (TULPs). Members of this family have been identified in plants, vertebrates, and invertebrates. TULP proteins share a conserved C-terminal region of approximately 200 amino acid residues. The protein encoded by this gene is thought to play a role in the physiology of photoreceptors. Mutations in this gene are associated with recessive juvenile retinitis pigmentosa and Leber congenital amaurosis-15. [provided by RefSeq, Nov 2016]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Genome-wide association study identifies variants associated with progression of liver fibrosis from HCV infection. GeneReviews: Not available | |
| Leber congenital amaurosis 15 MedGen: C3151206OMIM: 613843GeneReviews: Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview | See labs |
| Retinitis pigmentosa 14 | See labs |
Genomic context
- Location:
- 6p21.31
- Sequence:
- Chromosome: 6; NC_000006.12 (35497874..35512896, complement)
- Total number of exons:
- 15
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for TULP1 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
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.