GeneID: 76


Names

Common Name: GPM6B Type: Gene
Chromosome: X (NC_000023.11) Locus: NG_011988.1 (GPM6B )
HUGO Symbol: GPM6B Full Name: glycoprotein M6B
Exons: 7 Introns: 6

Description:
The neuronal membrane glycoprotein GPM6B is a member of the myelin proteolipid protein family. It has a high protein sequence similarity to the founder proteolipid protein 1 (PLP1) and is most abundantly expressed in the neurons and oligodendrocytes. Members of this family 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. The encoded protein may also be involved in osteoblast differentiation. Polymorphisms in this gene associated with HbF levels in sickle cell patients. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are located on chromosomes Y and 22.

Synonyms: M6B

Comments:
N/A

Publications / Origin

  1. Sebastiani P, Wang L, Nolan VG, Melista E, Ma Q, Baldwin CT, Steinberg MH, Fetal hemoglobin in sickle cell anemia: Bayesian modeling of genetic associations., Am. J. Hematol. , 83(3), 189-95, 2008
  2. Drabek K, van de Peppel J, Eijken M, van Leeuwen JP, GPM6B regulates osteoblast function and induction of mineralization by controlling cytoskeleton and matrix vesicle release., J. Bone Miner. Res. , 26(9), 2045-51, 2011
Created on 2016-04-26 15:26:40, Last reviewed on 2016-04-26 15:30:35 (Show full history)


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