Gene: MIP

Alternate names for this Gene: AQP0|CTRCT15|LIM1|MIP26|MP26

Gene Summary: Major intrinsic protein is a member of the water-transporting aquaporins as well as the original member of the MIP family of channel proteins. The function of the fiber cell membrane protein encoded by this gene is undetermined, yet this protein is speculated to play a role in intracellular communication. The MIP protein is expressed in the ocular lens and is required for correct lens function. This gene has been mapped among aquaporins AQP2, AQP5, and AQP6, in a potential gene cluster at 12q13.

Gene is located in Chromosome: 12

Location in Chromosome : 12q13.3

Description of this Gene: major intrinsic protein of lens fiber

Type of Gene: protein-coding

rs121917867 in MIP gene and CATARACT 15, MULTIPLE TYPES PMID 11001937 2000 Functional impairment of lens aquaporin in two families with dominantly inherited cataracts.

PMID 16564824 2006 Novel single-base deletional mutation in major intrinsic protein (MIP) in autosomal dominant cataract.

PMID 21245956 2011 A novel mutation in MIP associated with congenital nuclear cataract in a Chinese family.

PMID 20361015 2010 A novel mutation in the major intrinsic protein (MIP) associated with autosomal dominant congenital cataracts in a Chinese family.

PMID 17960133 2007 A substitution of arginine to lysine at the COOH-terminus of MIP caused a different binocular phenotype in a congenital cataract family.

PMID 10802646 2000 Missense mutations in MIP underlie autosomal dominant 'polymorphic' and lamellar cataracts linked to 12q.

PMID 23116563 2013 An MIP/AQP0 mutation with impaired trafficking and function underlies an autosomal dominant congenital lamellar cataract.

PMID 24120416 2013 Functional characterization of an AQP0 missense mutation, R33C, that causes dominant congenital lens cataract, reveals impaired cell-to-cell adhesion.

PMID 17893667 2007 A novel mutation in major intrinsic protein of the lens gene (MIP) underlies autosomal dominant cataract in a Chinese family.

PMID 25946197 2015 Identification and Functional Analysis of a Novel MIP Gene Mutation Associated with Congenital Cataract in a Chinese Family.

rs864309693 in MIP gene and Congenital cataract PMID 26694549 2016 Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing.

rs1082214 in MIP gene and Serum albumin measurement PMID 22286219 2012 Genome-wide association study identifies multiple loci influencing human serum metabolite levels.