Gene: RXYLT1

Alternate names for this Gene: HP10481|MDDGA10|TMEM5

Gene Summary: This gene encodes a type II transmembrane protein that is thought to have glycosyltransferase function. Mutations in this gene result in cobblestone lissencephaly. Alternative splicing results in multiple transcript variants encoding different isoforms.

Gene is located in Chromosome: 12

Location in Chromosome : 12q14.2

Description of this Gene: ribitol xylosyltransferase 1

Type of Gene: protein-coding

Gene: RXYLT1-AS1

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

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Description of this Gene:

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rs150736997 in RXYLT1;RXYLT1-AS1 gene and MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 10 PMID 23217329 2012 Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly.

PMID 27212206 2016 TMEM5-associated dystroglycanopathy presenting with CMD and mild limb-girdle muscle involvement.

PMID 27733679 2016 The Muscular Dystrophy Gene TMEM5 Encodes a Ribitol β1,4-Xylosyltransferase Required for the Functional Glycosylation of Dystroglycan.

PMID 27130732 2016 The functional O-mannose glycan on α-dystroglycan contains a phospho-ribitol primed for matriglycan addition.

PMID 23519211 2013 Deciphering the glycosylome of dystroglycanopathies using haploid screens for lassa virus entry.

rs150736997 in RXYLT1;RXYLT1-AS1 gene and Walker-Warburg congenital muscular dystrophy PMID 23217329 2012 Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly.