Recombinant Human Lens fiber major intrinsic protein (MIP)

1. Study presented genetic and functional evidence for a novel major intrinsic protein mutation of G212R, which leads to congenital progressive cortical punctate with or without Y suture. PMID: 28059152
2. In summary, whole-exome sequencing identifies a novel heterozygous missense variant (c.402G > T) in rarely reported cataract gene of MIP in an unconsanguineous marriage of three-generation Chinese family with congenital cataracts. PMID: 28836894
3. The data evidence a broad lipidation profile of AQP0 that is both species and site independent, suggesting a chemical-based ester aminolysis mechanism to explain such modifications. PMID: 27378310
4. A novel MIP frame-shift mutation in familial congenital nuclear cataract patient PMID: 27456987
5. defects in AQP-0 permeability may be a cause for presbyopia. PMID: 26615967
6. 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. PMID: 25946197
7. Authors identified a novel nonsense mutation in MIP (c.657 C>G; p.Y219*) (major intrinsic protein gene) that segregates with congenital posterior polar cataract in a Chinese family. PMID: 25803033
8. Functional evidence linking the new MIP mutation of G215D to autosomal dominant congenital cataracts. PMID: 25033405
9. A novel donor splice-site mutation (c.606+1G>A) in the MIP gene causes congenital cataract in a Chinese family. PMID: 24319327
10. the first nonsense mutation of MIP identified in autosomal dominant congenital cataracts PMID: 24405844
11. Mutation of this conserved glycine residue leads to improper trafficking of AQP0-G165D and loss of water channel function. PMID: 23116563
12. Aquaporin 0 R233K mutation did not affect the expression, location and trafficking of the protein but did influence the interaction between AQP0 and CaM. PMID: 22662182
13. Direct tissue analysis led to the detection of aging-related AQP0 modifications including carbamylation, acetylation, and oleoylation. PMID: 22036630
14. Major intrinsic protein (MIP) polymorphism is associated with age-related cataract in Chinese. PMID: 21921980
15. Cerulean cataract has been mapped to chromosome 12q13 and associated with a novel initiation codon mutation in MIP. PMID: 21850180
16. A novel mutation in the MIP gene is associated with autosomal dominant congenital nuclear cataract in a Chinese family. PMID: 21647270
17. analysis of a novel disease-causing mutation p.R187C in MIP in a Chinese cataract family PMID: 21245956
18. AQP-0 gene expression was 3.4-fold higher in rat retinas. AQP-0 was predominantly expressed in the bipolar cells of the non-diabetic rat retinas, whereas it was also expressed in the retinal nerve fibers of diabetic rat retinas PMID: 21232536
19. This is the first report of activation of a cryptic splice site in the 3' UTR in the human MIP gene. PMID: 21139677
20. This study has identified a novel MIP mutation, p.V107I in a Chinese family with congenital cataracts. PMID: 20361015
21. In human, multiple aquaporins are expressed in developing teeth and in selected orofacial tissues. PMID: 12522663
22. Analysis of C-terminal peptides of AQP0 from normal lenses of donors aged 34 to 38 reveals a remarkably similar pattern and distribution of truncation products, suggesting specific temporal mechanisms for post-translational modification of AQP0. PMID: 15274640
23. Expression of hMafF or MIP alone did not alter basal reporter transcription activity, whereas co-expression of hMafF and MIP activated transcription efficiently. PMID: 16549056
24. We identified a novel single base pair deletion in the MIP gene and conclude that it is a pathogenic sequence alteration. PMID: 16564824
25. First dominant cataract mutation in MIP that is located outside the phylogenetically conserved transmembrane domain. PMID: 17893667
26. The structure of aquaporin-0 (AQP0) has recently been determined by electron crystallography of two-dimensional crystals and by X-ray crystallography of three-dimensional crystals--REVIEW PMID: 17932686
27. Arginine in this domain plays a crucial role in the function of the carboxyl-end of this protein and provides a helpful clue to further studies on completely understanding the physiological significance of MIP and its role in the formation of cataract. PMID: 17960133
28. presence of measurable interactions between MIP26 and all crystallins, with the extent of interactions decreasing from alphaA- and alphaB-crystallin to betaB2- and gammaC-crystallin. PMID: 18004741
29. To map the disease locus for a congenital cataract family, and detect the disease-causing gene. PMID: 18247294
30. deletion mutation in AQP0 resulted in the localization of the mutant protein in the ER without trafficking to the plasma membrane, and cytotoxicity due to the accumulation of the mutant protein PMID: 18501347
31. This is the first report on an acceptor splice-site mutation in human genes associated with dominant congenital cataract. PMID: 19137077
32. Only in the presence of both MIP and hMafF could the nUS2-pLacZi reporter in yeast genome be activated. PMID: 19723544
33. this is the first report validating the possible structural role of intact AQP0 as a cell-to-cell adhesion protein, using an in vitro expression system. PMID: 19857466

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HGNC: 7103

OMIM: 154050

KEGG: hsa:4284

STRING: 9606.ENSP00000257979

UniGene: Hs.574026