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- Table of Contents
Facts about Phakinin.
Human | |
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Gene Name: | BFSP2 |
Uniprot: | Q13515 |
Entrez: | 8419 |
Belongs to: |
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intermediate filament family |
beaded filament structural protein 2, phakinin; CP47; CP49; Cytoskeletal protein, 49-kD; MGC142078; phakinin
Mass (kDA):
45.88 kDA
Human | |
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Location: | 3q22.1 |
Sequence: | 3; NC_000003.12 (133397882..133475208) |
Lens.
Cell membrane; Peripheral membrane protein; Cytoplasmic side. Cytoplasm. Cytoplasm, cytoskeleton. Cytoplasm, cell cortex. Expressed primarily at the plasma membrane in peripheral lens fiber cells, however also localizes to the cytoplasm in mature lens fiber cells.
PMID: 8636093 by Hess J.F., et al. Gene structure and cDNA sequence identify the beaded filament protein CP49 as a highly divergent type I intermediate filament protein.
PMID: 10739768 by Jakobs P.M., et al. Autosomal-dominant congenital cataract associated with a deletion mutation in the human beaded filament protein gene BFSP2.