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Sequence of this protein is as follows: MYENECECQL LLKEMLERLN KEADEALLHN LRLQLEAQFL QDDISAAKDR HKKNLLEVQT YISILQQIIH TTPPASIVTS GMREEKLLTE REVAALRSQL EEGREVLSHL QAQRVELQAQ TTTLEQAIKS AHECYDDEIQ LYNEQIETLR KEIEETERVL EKSSYDCRQL AVAQQTLKNE LDRYHRIIEI EGNRLTSAFI ETPIPLFTQS HGVSLSTGSG GKDLTRALQD ITAAKPRQKA LPKNVPRRKE IITKDKTNGA LEDAPLKGLE DTKLVQVVLK EESESKFESE SKEVSPLTQE GAPEDVPDGG QISKGFGKLY RKVKEKVRSP KEPETPTELY TKERHVLVTG DANYVDPRFY VSSITAKGGV AVSVAEDSVL YDGQVGPSPE SPKPPLENGQ VGLQEKEDGQ PIDQQPIDKE IEPDGAELEG PEEKREGEER DEESRRPCAM VTPGAEEPSI PEPPKPAADQ DGAEVLGTRS RSLPEKGPPK ALAYKTVEVV ESIEKISTES IQTYEETAVI VETMIGKTKS DKKKSGEKSS
More than 99% of the vertebrate ocular lens is comprised of terminally differentiated lens fiber cells. Two lens-specific intermediate filament-like proteins, CP49 (also known as phakinin) and the protein product of this gene, filensin, 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 are the cause of autosomal recessive cortical juvenile-onset cataract. Multiple transcript variants encoding different isoforms have been found for this gene.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: Beaded filament structural protein 1; beaded filament structural protein 1, filensin; CP115; cytoskeletal protein, 115 KD; Filensin; Lens fiber cell beaded-filament structural protein CP 115; Lens intermediate filament-like heavy; LIFL-H; RP4-531H16.2
基因别名: BFSP1; CP115; CP94; CTRCT33; LIFL-H
UniProt ID: (Human) Q12934
Entrez Gene ID: (Human) 631