BFSP2

Beaded filament structural protein 2, phakinin, also known as BFSP2, is a human gene.cite web | title = Entrez Gene: BFSP2 beaded filament structural protein 2, phakinin| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=8419| accessdate = ]

PBB_Summary
section_title =
summary_text = More than 99% of the vertebrate ocular lens is comprised of terminally differentiated lens fiber cells. Two lens-specific intermediate filament-like proteins, the protein product of this gene (CP49 or phakinin) and filensin (also known as CP115), are expressed only after fiber cell differentiation has begun. Both proteins are found in a structurally unique cytoskeletal element that is referred to as the beaded filament (BF). Mutations in this gene have been associated with juvenile-onset, progressive cataracts and Dowling-Meara epidermolysis bullosa simplex.cite web | title = Entrez Gene: BFSP2 beaded filament structural protein 2, phakinin| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=8419| accessdate = ]

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Merdes A, Gounari F, Georgatos SD |title=The 47-kD lens-specific protein phakinin is a tailless intermediate filament protein and an assembly partner of filensin. |journal=J. Cell Biol. |volume=123 |issue= 6 Pt 1 |pages= 1507–16 |year= 1994 |pmid= 7504675 |doi=
*cite journal | author=Hess JF, Casselman JT, FitzGerald PG |title=Chromosomal locations of the genes for the beaded filament proteins CP 115 and CP 47. |journal=Curr. Eye Res. |volume=14 |issue= 1 |pages= 11–8 |year= 1995 |pmid= 7720401 |doi=
*cite journal | author=Hess JF, Casselman JT, FitzGerald PG |title=Gene structure and cDNA sequence identify the beaded filament protein CP49 as a highly divergent type I intermediate filament protein. |journal=J. Biol. Chem. |volume=271 |issue= 12 |pages= 6729–35 |year= 1996 |pmid= 8636093 |doi=
*cite journal | author=Bonaldo MF, Lennon G, Soares MB |title=Normalization and subtraction: two approaches to facilitate gene discovery. |journal=Genome Res. |volume=6 |issue= 9 |pages= 791–806 |year= 1997 |pmid= 8889548 |doi=
*cite journal | author=Hess JF, Casselman JT, Kong AP, FitzGerald PG |title=Primary sequence, secondary structure, gene structure, and assembly properties suggests that the lens-specific cytoskeletal protein filensin represents a novel class of intermediate filament protein. |journal=Exp. Eye Res. |volume=66 |issue= 5 |pages= 625–44 |year= 1998 |pmid= 9628810 |doi= 10.1006/exer.1998.0478
*cite journal | author=Conley YP, Erturk D, Keverline A, "et al." |title=A juvenile-onset, progressive cataract locus on chromosome 3q21-q22 is associated with a missense mutation in the beaded filament structural protein-2. |journal=Am. J. Hum. Genet. |volume=66 |issue= 4 |pages= 1426–31 |year= 2000 |pmid= 10729115 |doi=
*cite journal | author=Jakobs PM, Hess JF, FitzGerald PG, "et al." |title=Autosomal-dominant congenital cataract associated with a deletion mutation in the human beaded filament protein gene BFSP2. |journal=Am. J. Hum. Genet. |volume=66 |issue= 4 |pages= 1432–6 |year= 2000 |pmid= 10739768 |doi=
*cite journal | author=Carter JM, McLean WH, West S, Quinlan RA |title=Mapping of the human CP49 gene and identification of an intragenic polymorphic marker to allow genetic linkage analysis in autosomal dominant congenital cataract. |journal=Biochem. Biophys. Res. Commun. |volume=270 |issue= 2 |pages= 432–6 |year= 2000 |pmid= 10753642 |doi= 10.1006/bbrc.2000.2442
*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=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=Zhang Q, Guo X, Xiao X, "et al." |title=Clinical description and genome wide linkage study of Y-sutural cataract and myopia in a Chinese family. |journal=Mol. Vis. |volume=10 |issue= |pages= 890–900 |year= 2005 |pmid= 15570218 |doi=
*cite journal | author=Zhang L, Gao L, Li Z, "et al." |title=Progressive sutural cataract associated with a BFSP2 mutation in a Chinese family. |journal=Mol. Vis. |volume=12 |issue= |pages= 1626–31 |year= 2007 |pmid= 17200662 |doi=
*cite journal | author=Cui X, Gao L, Jin Y, "et al." |title=The E233del mutation in BFSP2 causes a progressive autosomal dominant congenital cataract in a Chinese family. |journal=Mol. Vis. |volume=13 |issue= |pages= 2023–9 |year= 2007 |pmid= 17982427 |doi=

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