FSCN2 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Aliases | FSCN2 , RFSN, RP30, fascin actin-bundling protein 2, retinal | ||||||||||||||||||||||||||||||||||||||||||||||||||
External IDs | OMIM: 607643 MGI: 2443337 HomoloGene: 22722 GeneCards: FSCN2 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Fascin-2 is a protein that in humans is encoded by the FSCN2 gene. [5] [6]
This gene encodes a member of the fascin protein family. Fascins crosslink actin into filamentous bundles within dynamic cell extensions. This family member is proposed to play a role in photoreceptor disk morphogenesis. A mutation in this gene results in one form of autosomal dominant retinitis pigmentosa and macular degeneration. Multiple transcript variants encoding different isoforms have been found for this gene. [6]
Retinitis pigmentosa (RP) is a genetic disorder of the eyes that causes loss of vision. Symptoms include trouble seeing at night and decreasing peripheral vision. As peripheral vision worsens, people may experience "tunnel vision". Complete blindness is uncommon. Onset of symptoms is generally gradual and often begins in childhood.
Peripherin-2 is a protein, that in humans is encoded by the PRPH2 gene. Peripherin-2 is found in the rod and cone cells of the retina of the eye. Defects in this protein result in one form of retinitis pigmentosa, an incurable blindness.
PRP31 pre-mRNA processing factor 31 homolog , also known as PRPF31, is a protein which in humans is encoded by the PRPF31 gene.
Protein XRP2 is a protein that in humans is encoded by the RP2 gene.
S-arrestin is a protein that in humans is encoded by the SAG gene.
Crumbs homolog 1 is a protein that in humans is encoded by the CRB1 gene.
EGF-containing fibulin-like extracellular matrix protein 1 is a protein that in humans is encoded by the EFEMP1 gene.
Guanylyl cyclase-activating protein 1 is an enzyme that in humans is encoded by the GUCA1A gene.
Tubby-related protein 1 is a protein that in humans is encoded by the TULP1 gene.
Rod outer segment membrane protein 1 is a protein that in humans is encoded by the ROM1 gene.
Oxygen-regulated protein 1 also known as retinitis pigmentosa 1 protein (RP1) is a protein that in humans is encoded by the RP1 gene.
Visual system homeobox 1 is a protein that in humans is encoded by the VSX1 gene.
Hemicentin-1 is a protein that in humans is encoded by the HMCN1 gene.
Cyclic nucleotide gated channel beta 1, also known as CNGB1, is a human gene encoding an ion channel protein.
Rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha is an enzyme that in humans is encoded by the PDE6A gene.
Retinitis pigmentosa 9 , also known as RP9 or PAP-1, is a protein which in humans is encoded by the RP9 gene.
Membrane frizzled-related protein is a protein that in humans is encoded by the MFRP gene.
Inosine-5'-monophosphate dehydrogenase 1, also known as IMP dehydrogenase 1, is an enzyme that in humans is encoded by the IMPDH1 gene.
Retinal degeneration is a retinopathy which consists in the deterioration of the retina caused by the progressive death of its cells. There are several reasons for retinal degeneration, including artery or vein occlusion, diabetic retinopathy, R.L.F./R.O.P., or disease. These may present in many different ways such as impaired vision, night blindness, retinal detachment, light sensitivity, tunnel vision, and loss of peripheral vision to total loss of vision. Of the retinal degenerative diseases retinitis pigmentosa (RP) is a very important example.
Fascin-3 also known as testis fascin is a protein that in humans is encoded by the FSCN3 gene.