GPM6B

glycoprotein M6B

Summary

This gene encodes a membrane glycoprotein that belongs to the proteolipid protein family. Proteolipid protein family members are expressed in most brain regions and are thought to be involved in cellular housekeeping functions such as membrane trafficking and cell-to-cell communication. This protein may also be involved in osteoblast differentiation. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are located on chromosomes Y and 22. [provided by RefSeq, Jan 2016]

Known Variants16 total

rsidPosition (GRCh37)AllelesClassClinVar
rs36099093X:13,794,363A/Gbenign
rs757587714X:13,794,368C/Tuncertain significance
rs2519042728X:13,794,386C/Tuncertain significance
rs1555910377X:13,795,465G/Alikely benign
rs141687297X:13,795,519G/Alikely benign
rs774122710X:13,797,959G/Cuncertain significance
rs200352293X:13,797,993G/Auncertain significance
rs770553728X:13,801,500C/Tuncertain significance
rs2519071745X:13,801,551G/Auncertain significance
rs144162602X:13,803,769C/Tlikely benign
rs769454569X:13,835,001G/Tuncertain significance
rs5934135X:13,885,784C/Gintron variant
rs7066890X:13,892,582T/A
rs6528024X:13,930,922C/Tintron variant
rs66819623X:13,954,397C/Tintron variant
rs66824950X:13,954,494C/Tintron variant

Gene information from NCBI Gene. Variant classifications from ClinVar.