CRYBB1

Crystallin, beta B1, also known as CRYBB1, is a human gene.cite web | title = Entrez Gene: CRYBB1 crystallin, beta B1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1414| accessdate = ]

PBB_Summary
section_title =
summary_text = Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. Since lens central fiber cells lose their nuclei during development, these crystallins are made and then retained throughout life, making them extremely stable proteins. Mammalian lens crystallins are divided into alpha, beta, and gamma families; beta and gamma crystallins are also considered as a superfamily. Alpha and beta families are further divided into acidic and basic groups. Seven protein regions exist in crystallins: four homologous motifs, a connecting peptide, and N- and C-terminal extensions. Beta-crystallins, the most heterogeneous, differ by the presence of the C-terminal extension (present in the basic group, none in the acidic group). Beta-crystallins form aggregates of different sizes and are able to self-associate to form dimers or to form heterodimers with other beta-crystallins. This gene, a beta basic group member, undergoes extensive cleavage at its N-terminal extension during lens maturation. It is also a member of a gene cluster with beta-A4, beta-B2, and beta-B3.cite web | title = Entrez Gene: CRYBB1 crystallin, beta B1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1414| accessdate = ]

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Hulsebos TJ, Gilbert DJ, Delattre O, "et al." |title=Assignment of the beta B1 crystallin gene (CRYBB1) to human chromosome 22 and mouse chromosome 5. |journal=Genomics |volume=29 |issue= 3 |pages= 712–8 |year= 1996 |pmid= 8575764 |doi= 10.1006/geno.1995.9947
*cite journal | author=David LL, Lampi KJ, Lund AL, Smith JB |title=The sequence of human betaB1-crystallin cDNA allows mass spectrometric detection of betaB1 protein missing portions of its N-terminal extension. |journal=J. Biol. Chem. |volume=271 |issue= 8 |pages= 4273–9 |year= 1996 |pmid= 8626774 |doi=
*cite journal | author=Lampi KJ, Ma Z, Hanson SR, "et al." |title=Age-related changes in human lens crystallins identified by two-dimensional electrophoresis and mass spectrometry. |journal=Exp. Eye Res. |volume=67 |issue= 1 |pages= 31–43 |year= 1998 |pmid= 9702176 |doi= 10.1006/exer.1998.0481
*cite journal | author=Dunham I, Shimizu N, Roe BA, "et al." |title=The DNA sequence of human chromosome 22. |journal=Nature |volume=402 |issue= 6761 |pages= 489–95 |year= 1999 |pmid= 10591208 |doi= 10.1038/990031
*cite journal | author=MacCoss MJ, McDonald WH, Saraf A, "et al." |title=Shotgun identification of protein modifications from protein complexes and lens tissue. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 12 |pages= 7900–5 |year= 2002 |pmid= 12060738 |doi= 10.1073/pnas.122231399
*cite journal | author=Mackay DS, Boskovska OB, Knopf HL, "et al." |title=A nonsense mutation in CRYBB1 associated with autosomal dominant cataract linked to human chromosome 22q. |journal=Am. J. Hum. Genet. |volume=71 |issue= 5 |pages= 1216–21 |year= 2003 |pmid= 12360425 |doi=
*cite journal | author=Strausberg RL, Feingold EA, Grouse LH, "et al." |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899
*cite journal | author=Stempel D, Sandusky H, Lampi K, "et al." |title=BetaB1-crystallin: identification of a candidate ciliary body uveitis antigen. |journal=Invest. Ophthalmol. Vis. Sci. |volume=44 |issue= 1 |pages= 203–9 |year= 2003 |pmid= 12506076 |doi=
*cite journal | author=Babenko AP, Bryan J |title=Sur domains that associate with and gate KATP pores define a novel gatekeeper. |journal=J. Biol. Chem. |volume=278 |issue= 43 |pages= 41577–80 |year= 2004 |pmid= 12941953 |doi= 10.1074/jbc.C300363200
*cite journal | author=Van Montfort RL, Bateman OA, Lubsen NH, Slingsby C |title=Crystal structure of truncated human betaB1-crystallin. |journal=Protein Sci. |volume=12 |issue= 11 |pages= 2606–12 |year= 2004 |pmid= 14573871 |doi=
*cite journal | author=Harms MJ, Wilmarth PA, Kapfer DM, "et al." |title=Laser light-scattering evidence for an altered association of beta B1-crystallin deamidated in the connecting peptide. |journal=Protein Sci. |volume=13 |issue= 3 |pages= 678–86 |year= 2004 |pmid= 14978307 |doi= 10.1110/ps.03427504
*cite journal | author=Collins JE, Wright CL, Edwards CA, "et al." |title=A genome annotation-driven approach to cloning the human ORFeome. |journal=Genome Biol. |volume=5 |issue= 10 |pages= R84 |year= 2005 |pmid= 15461802 |doi= 10.1186/gb-2004-5-10-r84
*cite journal | author=Gerhard DS, Wagner L, Feingold EA, "et al." |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504
*cite journal | author=Annunziata O, Pande A, Pande J, "et al." |title=Oligomerization and phase transitions in aqueous solutions of native and truncated human beta B1-crystallin. |journal=Biochemistry |volume=44 |issue= 4 |pages= 1316–28 |year= 2005 |pmid= 15667225 |doi= 10.1021/bi048419f
*cite journal | author=Willoughby CE, Shafiq A, Ferrini W, "et al." |title=CRYBB1 mutation associated with congenital cataract and microcornea. |journal=Mol. Vis. |volume=11 |issue= |pages= 587–93 |year= 2006 |pmid= 16110300 |doi=
*cite journal | author=Hou HH, Kuo MY, Luo YW, Chang BE |title=Recapitulation of human betaB1-crystallin promoter activity in transgenic zebrafish. |journal=Dev. Dyn. |volume=235 |issue= 2 |pages= 435–43 |year= 2006 |pmid= 16331646 |doi= 10.1002/dvdy.20652
*cite journal | author=Smith MA, Bateman OA, Jaenicke R, Slingsby C |title=Mutation of interfaces in domain-swapped human betaB2-crystallin. |journal=Protein Sci. |volume=16 |issue= 4 |pages= 615–25 |year= 2007 |pmid= 17327390 |doi= 10.1110/ps.062659107
*cite journal | author=Koteiche HA, Kumar MS, McHaourab HS |title=Analysis of betaB1-crystallin unfolding equilibrium by spin and fluorescence labeling: evidence of a dimeric intermediate. |journal=FEBS Lett. |volume=581 |issue= 10 |pages= 1933–8 |year= 2007 |pmid= 17448466 |doi= 10.1016/j.febslet.2007.04.004
*cite journal | author=Cohen D, Bar-Yosef U, Levy J, "et al." |title=Homozygous CRYBB1 deletion mutation underlies autosomal recessive congenital cataract. |journal=Invest. Ophthalmol. Vis. Sci. |volume=48 |issue= 5 |pages= 2208–13 |year= 2007 |pmid= 17460281 |doi= 10.1167/iovs.06-1019
*cite journal | author=Wang J, Ma X, Gu F, "et al." |title=A missense mutation S228P in the CRYBB1 gene causes autosomal dominant congenital cataract. |journal=Chin. Med. J. |volume=120 |issue= 9 |pages= 820–4 |year= 2007 |pmid= 17531125 |doi=

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