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// Workers AI · dad joke modeIs RXYLT1 a gene? Does it have a twin: RXYLT2?

From Wikipedia, the free encyclopedia
RXYLT1
Identifiers
AliasesRXYLT1, HP10481, MDDGA10, transmembrane protein 5, ribitol xylosyltransferase 1, TMEM5
External IDsOMIM: 605862; MGI: 2384919; HomoloGene: 8600; GeneCards: RXYLT1; OMA:RXYLT1 - orthologs
Enzyme activity
EC #BRENDAExPASyKEGGMetaCyc
2.4.2.61
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001278237
NM_014254

NM_153059
NM_001364706

RefSeq (protein)

NP_001265166
NP_055069

NP_694699
NP_001351635

Location (UCSC)Chr 12: 63.78 – 63.81 Mbn/a
PubMed search[2][3]
Wikidata
View/Edit HumanView/Edit Mouse

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. 1 2 3 GRCh38: Ensembl release 89: ENSG00000118600 Ensembl, May 2017
  2. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  3. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Entry - *605862 - RIBITOL XYLOSYLTRANSFERASE 1; RXYLT1 - OMIM". omim.org. Archived from the original on 2025-04-05. Retrieved 2026-07-27.
  5. "Genome browser — Ensembl". beta.ensembl.org. Retrieved 2026-07-27.
  6. "Gene symbol report | HUGO Gene Nomenclature Committee". www.genenames.org. Retrieved 2026-07-27.
  7. 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.
  8. "Entry - *605862 - RIBITOL XYLOSYLTRANSFERASE 1; RXYLT1 - OMIM". omim.org. Archived from the original on 2025-04-05. Retrieved 2026-07-27.