RXYLT1

RXYLT1
Identifiers
AliasesRXYLT1, HP10481, MDDGA10, transmembrane protein 5, ribitol xylosyltransferase 1, TMEM5
External IDsOMIM: 605862; MGI: 2384919; GeneCards: RXYLT1
Enzyme activity
EC #BRENDAExPASyKEGGMetaCyc
2.4.2.61↗↗↗↗
Orthologs
DatabasesNCBI: entry; OMA: entry
SpeciesHumanMouse
Entrez

10329

216395

Ensembl

ENSG00000118600

n/a

UniProt

Q9Y2B1

Q8VDX6

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

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

This enzyme is located in the golgi apparatus, and serves as a ribitol b1,4-xylosyltransferase for dystroglycan.[7]

Clinical significance

Mutations in this gene can cause Muscle-eye-brain disease and Walker-Warburg syndrome.[4]

References

  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. 1 2 "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 S, Lowe M, Mori K, Ninagawa S (June 2025). "Systematic and comprehensive analysis of major localizations of alpha-dystroglycan-specific modifying enzymes". Glycobiology. 35 (7) cwaf027. doi:10.1093/glycob/cwaf027. hdl:20.500.14094/0100496300. PMID 40324206.