// Workers AI · dad joke modeIs RXYLT1 a gene? Does it have a twin: RXYLT2?
Appearance
| RXYLT1 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | RXYLT1, HP10481, MDDGA10, transmembrane protein 5, ribitol xylosyltransferase 1, TMEM5 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 605862; MGI: 2384919; HomoloGene: 8600; GeneCards: RXYLT1; OMA:RXYLT1 - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
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| Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Ribitol-5-phosphate xylosyltransferase is an enzyme encoded by RXYLT1 gene.[4]
Gene
[edit]RXYLT1 is located on the long arm (q) of chromosome 12 on position 14.2, from base pair 63,779,833 to base pair 63,809,792.[5][6]
Function
[edit]This enzyme is located in the golgi apparatus, and serves as a ribitol b1,4-xylosyltransferase for dystroglycan.[7]
Clinical significance
[edit]Mutations in this gene can cause Muscle-eye-brain disease and Walker-Warburg syndrome.[8]
References
[edit]- 1 2 3 GRCh38: Ensembl release 89: ENSG00000118600 – Ensembl, May 2017
- ↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ↑ "Entry - *605862 - RIBITOL XYLOSYLTRANSFERASE 1; RXYLT1 - OMIM". omim.org. Archived from the original on 2025-04-05. Retrieved 2026-07-27.
- ↑ "Genome browser — Ensembl". beta.ensembl.org. Retrieved 2026-07-27.
- ↑ "Gene symbol report | HUGO Gene Nomenclature Committee". www.genenames.org. Retrieved 2026-07-27.
- ↑ Aso, Shinya; Lowe, Martin; Mori, Kazutoshi; Ninagawa, Satoshi (2025-07-01). "Systematic and comprehensive analysis of major localizations of alpha-dystroglycan-specific modifying enzymes". Glycobiology. 35 (7) cwaf027. doi:10.1093/glycob/cwaf027. ISSN 1460-2423.
- ↑ "Entry - *605862 - RIBITOL XYLOSYLTRANSFERASE 1; RXYLT1 - OMIM". omim.org. Archived from the original on 2025-04-05. Retrieved 2026-07-27.