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Gene

RXYLT1

ribitol xylosyltransferase 1

Summary

Cytogenetic location
12q14.2
Coordinates
Chromosome 12: 63,779,909–63,809,562 (GRCh38)
Exons
6 exons across 29.7 kb
Protein
443 amino acids
Also known as
HP10481
Previous symbols
TMEM5
MANE Select transcript
ENST00000261234.11NM_014254.3
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated report relevant to this gene

  • Congenital Muscular Dystrophies

    • Congenital muscular dystrophy

      A group of muscular dystrophies with onset at birth or in infancy, including dystroglycanopathies (such as FKRP, FKTN and POMT1/2-related forms).

      • ClinGen rates the link definitive
      • 4 GenCC submitters rate it definitive or strong

How RXYLT1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 12, with a bracket where RXYLT1 sits. RXYLT1 and 4 genes near it on chromosome 12, from 63,294,736 to 64,294,735.Chromosome 1212q14.2p13.33p13.32p13.31p13.2p13.1p12.3p12.2p12.1p11.23p11.22p11.21p11.1q11q12q13.11q13.12q13.13q13.2q13.3q14.1q14.2q14.3q15q21.1q21.2q21.31q21.32q21.33q22q23.1q23.2q23.3q24.11q24.12q24.13q24.21q24.22q24.23q24.31q24.32q24.3363.4 Mb63.6 Mb63.8 Mb64 Mb64.2 MbDPY19L2: 63,558,913–63,668,939, reverse strandDPY19L2RXYLT1: 63,779,909–63,809,562, forward strandRXYLT1SRGAP1: 63,843,756–64,162,217, forward strandSRGAP1KICS2: 64,182,929–64,222,309, reverse strandKICS2C12orf56: 64,264,762–64,390,781, reverse strandC12orf56Diagram of RXYLT1: 6 exons on the forward strand of chromosome 12Exon 1: 2 known disease-causing sitesExon 3: 2 known disease-causing sitesExon 4: 1 known disease-causing siteExon 6: 4 known disease-causing sitesExon 1: 63,779,909–63,780,129, 221 basesExon 2: 63,781,019–63,781,174, 156 basesExon 3: 63,784,970–63,785,072, 103 basesExon 4: 63,802,091–63,802,405, 315 basesExon 5: 63,805,234–63,805,404, 171 basesExon 6: 63,808,675–63,809,562, 888 bases1234565′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 1.9 kb of the gene's 29.7 kb; 1,332 of those bases code for the protein.

How a genome test reads RXYLT1

12

positions in RXYLT1 where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 29.7 kb of RXYLT1, introns included, not only the 1.9 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). RXYLT1 gene: ribitol xylosyltransferase 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/rxylt1

Vancouver

Dante Labs. RXYLT1 gene: ribitol xylosyltransferase 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/rxylt1

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