MBP

myelin basic protein

Summary

The protein encoded by the classic MBP gene is a major constituent of the myelin sheath of oligodendrocytes and Schwann cells in the nervous system. However, MBP-related transcripts are also present in the bone marrow and the immune system. These mRNAs arise from the long MBP gene (otherwise called "Golli-MBP") that contains 3 additional exons located upstream of the classic MBP exons. Alternative splicing from the Golli and the MBP transcription start sites gives rise to 2 sets of MBP-related transcripts and gene products. The Golli mRNAs contain 3 exons unique to Golli-MBP, spliced in-frame to 1 or more MBP exons. They encode hybrid proteins that have N-terminal Golli aa sequence linked to MBP aa sequence. The second family of transcripts contain only MBP exons and produce the well characterized myelin basic proteins. This complex gene structure is conserved among species suggesting that the MBP transcription unit is an integral part of the Golli transcription unit and that this arrangement is important for the function and/or regulation of these genes. [provided by RefSeq, Jul 2008]

Known Variants30 total

rsidPosition (GRCh37)AllelesClassClinVar
rs76196549818:74,692,410G/Alikely benign
rs14871618418:74,692,415T/Cuncertain significance
rs159944539118:74,692,421T/Glikely benign
rs57201741818:74,696,734C/Tlikely benign
rs77124168218:74,696,753G/Auncertain significance
rs76727071318:74,696,790C/Auncertain significance
rs144515843618:74,700,442G/Alikely benign
rs196980022818:74,701,932C/Tuncertain significance
rs7691295818:74,701,936G/Abenign
rs124136424218:74,701,989G/Auncertain significance
rs11495220118:74,701,992C/Tbenign
rs809440218:74,707,449A/C
rs47013118:74,710,638A/G
rs1295900618:74,727,631C/T3 prime UTR variant
rs14881920118:74,728,807G/Auncertain significance
rs74560250718:74,728,813C/Tuncertain significance
rs14527256718:74,728,817T/Cuncertain significance
rs57773038818:74,728,857C/Tlikely benign
rs14267647518:74,728,873G/Auncertain significance
rs14598735718:74,728,874G/Auncertain significance
rs121810106418:74,728,888C/Tuncertain significance
rs197168167118:74,728,910C/Tuncertain significance
rs14824703318:74,728,973G/Abenign
rs15063880018:74,729,121G/Alikely benign
rs1166369718:74,735,135G/Tregulatory region variant
rs52944757718:74,780,808G/C
rs228256618:74,807,141C/G
rs73642118:74,813,565G/Aregulatory region variant
rs163251618:74,842,348A/Cintron variant
rs178909418:74,846,185C/Tregulatory region variant

Gene information from NCBI Gene. Variant classifications from ClinVar.