UCSCGeneAnnotation:hg18-10223
Canonical gene details MBP uc002lmq.1
Other loci: uc010dqz.1, uc002lmp.1, uc002lmn.1, uc002lml.1, uc002lmr.1
Description: myelin basic protein isoform 2
RefSeq Summary (NM_001025101): 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].
(description snapshot 16:57, 22 October 2010 (UTC))
Alternate Gene Symbols: NM_002385, NP_002376, P02686-4
created: Jdcody 16:57, 22 October 2010 (UTC) uc002lmn.1
Gene Dosage: MBP is in the critical region for hemizygosity caused delayed CNS muelination (PMID: 19533771). The MBP (shi/+) mouse has normal appearing myelin but increased VEP latency (PMID: 17044038)
