Human Focal Adhesion Kinase 1, PTK2 ELISA Kit, 96T Drying & Desiccation Mutations in MBTPS1 may be

Mutations in MBTPS1 may be associated with lysosomal dysfunction

Mutations in this gene cause hypomyelinating leukodystrophy-6 and autosomal dominant torsion dystonia-4

Mutations in this gene are associated with the autosomal dominant disorder| encephalopathy| lethal| due to defective mitochondrial and peroxisomal fission (EMPF)

This protein is an essential factor for protein synthesis

Human Focal Adhesion Kinase 1, PTK2 ELISA Kit, 96T Drying & Desiccation Mutations in MBTPS1 may beNon receptor protein tyrosine kinase that plays an essential role in regulating cell migration, adhesion, spreading, reorganization of the actin cytoskeleton, formation and disassembly of focal adhesions and cell protrusions, cell cycle progression, cell proliferation and apoptosis. Required for early embryonic development and placenta development. Required for embryonic angiogenesis, normal cardiomyocyte migration and proliferation, and normal heart