RXYLT1, Official Symbol RXYLT1provided by HGNC Official Full Name ribitol xylosyltransferase 1provided by HGNC Primary source HGNC:HGNC:13530 See related Ensembl:ENSG00000118600 MIM:605862; AllianceGenome:HGNC:13530 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as TMEM5; HP10481; MDDGA10 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. [provided by RefSeq, May 2013] Expression Ubiquitous expression in testis (RPKM 8.9), thyroid (RPKM 7.4) and 25 other tissues See more Orthologs mouse all