![]() | This article may be too technical for most readers to understand.(April 2013) |
BFSP2 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
Aliases | BFSP2 , CP47, CP49, CTRCT12, LIFL-L, PHAKOSIN, beaded filament structural protein 2 | ||||||||||||||||||||||||||||||||||||||||||||||||||
External IDs | OMIM: 603212 MGI: 1333828 HomoloGene: 20791 GeneCards: BFSP2 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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BFSP2 is a gene that encodes the protein phakinin ("beaded filament structural protein 2") in humans. [5]
More than 99% of the vertebrate ocular lens consists of terminally differentiated lens fiber cells. Two lens-specific intermediate filament 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. [5]
The two BFSP proteins are put into a "type VI" of intermediate filament (IF) classification. Unlike other IFs that form unbranched links, the two proteins form a network of filaments together with CRYAA. [6] [7]
Intermediate filaments (IFs) are cytoskeletal structural components found in the cells of vertebrates, and many invertebrates. Homologues of the IF protein have been noted in an invertebrate, the cephalochordate Branchiostoma.
Gamma-crystallin D is a protein that in humans is encoded by the CRYGD gene.
Laminin subunit alpha-2 is a protein that in humans is encoded by the LAMA2 gene.
Cone-rod homeobox protein is a protein that in humans is encoded by the CRX gene.
Beta-crystallin B2 is a protein that in humans is encoded by the CRYBB2 gene.
Crystallin, gamma C, also known as CRYGC, is a protein which in humans is encoded by the CRYGC gene.
Transcription factor Maf also known as proto-oncogene c-Maf or V-maf musculoaponeurotic fibrosarcoma oncogene homolog is a transcription factor that in humans is encoded by the MAF gene.
Gap junction alpha-3 protein is a protein that in humans is encoded by the GJA3 gene.
Chloride channel 7 alpha subunit also known as H+/Cl− exchange transporter 7 is a protein that in humans is encoded by the CLCN7 gene. In melanocytic cells this gene is regulated by the Microphthalmia-associated transcription factor.
Beta-crystallin B1 is a protein that in humans is encoded by the CRYBB1 gene. Variants in CRYBB1 are associated with autosomal dominant congenital cataract.
Gamma-crystallin B is a protein that in humans is encoded by the CRYGB gene.
Beta-crystallin A3 is a protein that in humans is encoded by the CRYBA1 gene.
Gap junction alpha-8 protein is a protein that in humans is encoded by the GJA8 gene. It is also known as connexin 50.
Heat shock factor protein 4 is a protein that in humans is encoded by the HSF4 gene.
BFSP1 is a gene that encodes the protein filensin in humans.
Beta-crystallin B3 is a protein that in humans is encoded by the CRYBB3 gene.
Gamma-crystallin A is a protein that in humans is encoded by the CRYGA gene.
Pituitary homeobox 3 is a protein that in humans is encoded by the PITX3 gene.
Alpha-crystallin A chain is a protein that in humans is encoded by the CRYAA gene.
Forkhead box protein E3 (FOXE3) also known as forkhead-related transcription factor 8 (FREAC-8) is a protein that in humans is encoded by the FOXE3 gene located on the short arm of chromosome 1.