MPZL3 is a 235 amino acid single-pass type I membrane protein that regulates homophilic cell-to-cell adhesion. A member of the myelin P0 protein family, MPZL3 contains one Ig-like SLVtype (immunoglobulin-like) domain and is expressed in brain, heart, liver and skin. The gene encoding MPZL3 maps to human chromosome 11, which comprises approximately 4% of human genomic DNA and is considered a gene and disease association dense chromosome. The chromosome 11 encoded Atm gene is important for regulation of cell cycle arrest and apoptosis following double strand DNA breaks. Atm mutation leads to the disorder known as ataxia-telangiectasia. The blood disorders Sickle cell anemia and thalassemia are caused by HBB gene mutations, while Wilms' tumors, WAGR syndrome and Denys-Drash syndrome are associated with mutations of the WT1 gene. Jervell and Lange-Nielsen syndrome, Jacobsen syndrome, Niemann-Pick disease, hereditary angioedema and Smith-Lemli-Opitz syndrome are also associated with defects in chromosome 11-encoded genes.
Function:
Mediates homophilic cell-cell adhesion.
Subcellular Location:
Membrane.
Similarity:
Belongs to the myelin P0 protein family.
Contains 1 Ig-like SLVtype (immunoglobulin-like) domain.
SWISS:
Q6UWV2
Gene ID:
196264
Database links:
Entrez Gene: 521837 Cow
Entrez Gene: 196264 Human
Entrez Gene: 319742 Mouse
Entrez Gene: 363054 Rat
GenBank: BC113586 Human
Omim: 611707 Human
SwissProt: A5D7C3 Cow
SwissProt: Q6UWV2 Human
SwissProt: Q3V3F6 Mouse
Unigene: 15396 Human
Unigene: 49611 Mouse
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