TULP1 antibody - middle region (ARP33469_P050)
- Known as:
- TULP1 (anti-) - middle region (ARP33469_P050)
- Catalog number:
- arp33469_p050
- Product Quantity:
- USD
- Category:
- -
- Supplier:
- Aviva Systems Biology
- Gene target:
- TULP1 antibody - middle region (ARP33469_P050)
Related genes to: TULP1 antibody - middle region (ARP33469_P050)
- Gene:
- TULP1 NIH gene
- Name:
- TUB like protein 1
- Previous symbol:
- RP14
- Synonyms:
- TUBL1, LCA15
- Chromosome:
- 6p21.31
- Locus Type:
- gene with protein product
- Date approved:
- 1998-01-06
- Date modifiied:
- 2019-04-11
Related products to: TULP1 antibody - middle region (ARP33469_P050)
Related articles to: TULP1 antibody - middle region (ARP33469_P050)
- BACKGROUND In retinitis pigmentosa (RP), the optic nerve head typically exhibits a pale, waxy appearance and may demonstrates pseudo-swelling due to optic nerve drusen. However, true optic disc edema is rare and remains poorly understood. We present a case with unusual findings of bilateral disc swelling in non-syndromic RP caused by TULP1 mutation. CASE REPORT An 8-year-old boy initially presented to the vitreoretinal division at King Khaled Eye Specialist Hospital with nyctalopia and constricted visual fields in both eyes. Fundoscopic examination revealed widespread retinal pigment epithelial mottling, attenuated retinal blood vessels, and bilateral hyperemic optic nerve swelling. Multimodal imaging, including fundus autofluorescence, fluorescein angiography, optical coherence tomography, and ocular ultrasonography, confirmed true optic disc edema. Magnetic resonance imaging and arteriography/venography showed bilateral optic nerve head swelling without enhancement or radiographic signs of intracranial hypertension. Lumbar puncture revealed normal opening pressure and unremarkable cerebrospinal fluid analysis. The patient was diagnosed with RP, which was confirmed using electroretinography. Whole-exome sequencing revealed a homozygous c.1256G>A p.(Arg419GIn) variant in the tubby-line protein 1 gene (TULP1). The patient was followed for 2 years, during which visual function and optic disc appearance remained stable without treatment. CONCLUSIONS This case highlights a rare presentation of persistent bilateral true disc swelling in a patient with non-syndromic RP due to TULP1 mutation. Unlike previously reported cases, our patient showed persistent disc swelling that remained stable for over 2 years without treatment. This observation expands the phenotypic spectrum of RP and suggests that a non-progressive disc swelling may be part of the disease presentation in certain genetic subtypes such as TULP1. - Source: PubMed
Publication date: 2026/04/14
Alenazi MaramMagliyah Moustafa SAlsakran Wael A - TUB-like protein 1 (TULP1) is a protein expressed in rod and cone photoreceptors, where it is thought to play a role in ciliary transport. Pathogenic variants in TULP1 have been implicated in a number of retinal conditions, including non-syndromic retinitis pigmentosa, early-onset retinitis pigmentosa, Leber congenital amaurosis, cone dystrophy, and cone-rod dystrophy. We present two siblings, in whom biallelic likely pathogenic TULP1 variants manifest as an isolated bull's eye maculopathy in the absence of generalized photoreceptor degeneration. - Source: PubMed
Publication date: 2026/03/30
Cao Lauren YDuemler AnnaGao HuaGovind KishanAlekseev Oleg - Mutations in TULP1 are associated with early-onset forms of inherited retinal degenerations (IRDs). Evidence from Tulp1-/- mice indicates that TULP1 plays a role in photoreceptor protein trafficking. Here we generated two novel knock-in mouse models, each expressing the ortholog to a human IRD-causing homozygous missense TULP1 mutation to: 1) better recapitulate IRD patients' gene dosage and spatiotemporal degeneration, 2) determine the pathological disease mechanism, and 3) evaluate mutations affecting different domains of the protein. The Tulp1F492L model carries a mutation affecting a conserved amino acid in the C-terminal tubby domain, whereas the Tulp1D89Y model carries the only homozygous mutation located outside the tubby domain. In both mutant retinas, TULP1F492L and TULP1D89Y protein levels and distribution were comparable to WT. Surprisingly, variable retinal phenotypes were observed in the two mutant lines. The Tulp1F492L model displayed rapid photoreceptor degeneration, rod and cone opsin mistrafficking, and abnormal shaped ribbon synapses, similar to Tulp1-/- mice. In contrast, these abnormalities were not seen in the Tulp1D89Y model; indeed, retinal morphology and function was preserved up to 12 months, although we noted less RPE pigmentation and dilated structures in the outer plexiform layer at this timepoint. Moreover, building on our prior in vitro results, we observed activation of the IRE1 branch of the endoplasmic reticulum (ER)-unfolded protein response (UPR) complex in Tulp1-/- and Tulp1F492L retinas, identifying ER stress as a key disease mechanism leading to photoreceptor death and as a potential therapeutic target in TULP1-associated forms of IRD. - Source: PubMed
Jiang KeSinha SatyabrataBonilha Vera LYu MinzhongPeachey Neal SHagstrom Stephanie A
- Source: PubMed
- Systemic lupus erythematosus (SLE) and inflammatory bowel disease (IBD) are both categorized as autoimmune disorders and have similar non-specific gastrointestinal symptoms. SLE and IBD have shown shared genetic architecture in European ancestry; however, given the ancestry-specificity of genetic architecture, the shared genetic structure in East Asian ancestry remains unclear. This study reveals significant global and local genetic overlap between SLE and IBD subtypes in East Asian ancestry by using genetic correlation analyses. Cross-trait and colocalization analyses identify 64 shared loci and 19 causal variant credible sets between SLE and IBD subtypes. Notably, pleiotropic genes (HIC2, UBE2L3, ARAP1, ATG16L2, ANKS1A, and TULP1) were validated through Gene Expression Omnibus databases and previous studies. The major histocompatibility complex region emerges as a critical hub for shared genetic correlations and pleiotropic effects in SLE-IBD pathogenesis. Gene-level enrichment analyses implicate chemokine and lipid binding as underlying shared biological mechanisms. - Source: PubMed
Mo XiaoxiaoMo HuiWang ChaoPu QiuyiSha LanlanZhao LetianZhang ZhengdongWang TingWu Dongmei