Gene: MYO5B

Alternate names for this Gene: -

Gene Summary: The protein encoded by this gene, together with other proteins, may be involved in plasma membrane recycling. Mutations in this gene are associated with microvillous inclusion disease.

Gene is located in Chromosome: 18

Location in Chromosome : 18q21.1

Description of this Gene: myosin VB

Type of Gene: protein-coding

rs4939921 in MYO5B gene and Bipolar Disorder PMID 18317468 2008 Whole-genome association study of bipolar disorder.

rs146524044 in MYO5B gene and High density lipoprotein measurement PMID 29084231 2017 Common, low-frequency, and rare genetic variants associated with lipoprotein subclasses and triglyceride measures in Finnish men from the METSIM study.

rs121908103 in MYO5B gene and Microvillus inclusion disease PMID 18724368 2008 MYO5B mutations cause microvillus inclusion disease and disrupt epithelial cell polarity.

PMID 20186687 2010 Loss-of-function of MYO5B is the main cause of microvillus inclusion disease: 15 novel mutations and a CaCo-2 RNAi cell model.

PMID 24138727 2014 Microvillus inclusion disease: loss of Myosin vb disrupts intracellular traffic and cell polarity.

PMID 19006234 2008 Navajo microvillous inclusion disease is due to a mutation in MYO5B.

PMID 24892806 2014 Myosin Vb uncoupling from RAB8A and RAB11A elicits microvillus inclusion disease.

PMID 21206382 2011 Functional characterization of mutations in the myosin Vb gene associated with microvillus inclusion disease.

PMID 24892806 2014 In patients with MVID, MYO5B-P660L results in global changes in polarity at the villus tips that could account for deficits in apical absorption, loss of microvilli, aberrant junctions, and losses in transcellular ion transport pathways, likely leading to the MVID clinical phenotype of neonatal secretory diarrhea.

rs12965607 in MYO5B gene and Myopia PMID 27182965 2016 Detection and interpretation of shared genetic influences on 42 human traits.

rs146524044 in MYO5B gene and Phospholipid measurement PMID 29084231 2017 Common, low-frequency, and rare genetic variants associated with lipoprotein subclasses and triglyceride measures in Finnish men from the METSIM study.