RXYLT1 (ribitol xylosyltransferase 1)

2018-11-01  

Identity

HGNC
RXYLT1
LOCATION
12q14.2
LOCUSID
10329
ALIAS
HP10481,MDDGA10,TMEM5

Other Information

Locus ID:

NCBI: 10329
MIM: 605862
HGNC: 13530
Ensembl: ENSG00000118600

Variants:

dbSNP: 10329
ClinVar: 10329
TCGA: ENSG00000118600
COSMIC: RXYLT1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000118600ENST00000261234Q9Y2B1
ENSG00000118600ENST00000537373G3V1K2
ENSG00000118600ENST00000543342F5GXF8

Pathways

PathwaySourceExternal ID
Metabolic pathwaysKEGGhsa01100
Mannose type O-glycan biosynthesisKEGGko00515
Mannose type O-glycan biosynthesisKEGGhsa00515

References

Pubmed IDYearTitleCitations
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
232173292012Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly.48
271307322016The functional O-mannose glycan on α-dystroglycan contains a phospho-ribitol primed for matriglycan addition.37
277336792016The Muscular Dystrophy Gene TMEM5 Encodes a Ribitol β1,4-Xylosyltransferase Required for the Functional Glycosylation of Dystroglycan.10
294778422018Cell endogenous activities of fukutin and FKRP coexist with the ribitol xylosyltransferase, TMEM5.2

Citation

Dessen P

RXYLT1 (ribitol xylosyltransferase 1)

Atlas Genet Cytogenet Oncol Haematol. 2018-11-01

Online version: http://atlasgeneticsoncology.org/gene/80361/rxylt1