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The product of MIPEP performs the final step in processing a specific class of nuclear-encoded proteins targeted to the mitochondrial matrix or inner membrane. Additionally we are shipping Mitochondrial Intermediate Peptidase Antibodies (67) and Mitochondrial Intermediate Peptidase Kits (3) and many more products for this protein.
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MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death.
A novel MIP (show TNPO1 Proteins) frame-shift mutation in familial congenital nuclear cataract patient
defects in AQP-0 permeability may be a cause for presbyopia.
the p.D150H mutation is a novel disease-causing mutation in MIP, which leads to congenital progressive cortical punctate cataract by impairing the trafficking mechanism of AQP0.
Authors identified a novel nonsense mutation in MIP (show TNPO1 Proteins) (c.657 C>G; p.Y219*) (major intrinsic protein gene) that segregates with congenital posterior polar cataract in a Chinese family.
Functional evidence linking the new MIP (show TNPO1 Proteins) mutation of G215D to autosomal dominant congenital cataracts.
A novel donor splice-site mutation (c.606+1G>A) in the MIP (show TNPO1 Proteins) gene causes congenital cataract in a Chinese family.
the first nonsense mutation of MIP (show TNPO1 Proteins) identified in autosomal dominant congenital cataracts
Mutation of this conserved glycine residue leads to improper trafficking of AQP0-G165D and loss of water channel (show AQP4 Proteins) function.
Aquaporin 0 R233K mutation did not affect the expression, location and trafficking of the protein but did influence the interaction between AQP0 and CaM (show CALM1 Proteins).
The product of this gene performs the final step in processing a specific class of nuclear-encoded proteins targeted to the mitochondrial matrix or inner membrane. This protein is primarily involved in the maturation of oxidative phosphorylation (OXPHOS)-related proteins. This gene may contribute to the functional effects of frataxin deficiency and the clinical manifestations of Friedreich ataxia.
mitochondrial intermediate peptidase
, Mitochondrial intermediate peptidase
, aquaporin 0
, lens fiber major intrinsic protein
, Mitochondrial intermediate peptidase, mitochondrial