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Rabbit Anti-Fascin 2 antibody
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. [provided by RefSeq, Jul 2008]
Function:
Acts as an actin bundling protein. May play a pivotal role in photoreceptor cell-specific events, such as disk morphogenesis.
Subcellular Location:
Cytoplasm > cytoskeleton. Cell projection > stereocilium.
Tissue Specificity:
Localized specifically in the outer and inner segments of the photoreceptor cells in the retina.
DISEASE:
Defects in FSCN2 are the cause of retinitis pigmentosa type 30 (RP30) [MIM:607921]. RP leads to degeneration of retinal photoreceptor cells. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. RP30 inheritance is autosomal dominant.
Similarity:
Belongs to the fascin family.
SWISS:
O14926
Gene ID:
25794
Database links:
Entrez Gene: 25794 Human
Entrez Gene: 337926 Cow
Entrez Gene: 483362 Dog
Entrez Gene: 47621 Mouse
Entrez Gene: 303741 Rat
Omim: 607643 Human
SwissProt: O18728 Cow
SwissProt: O14926 Human
SwissProt: Q32M02 Mouse
Unigene: 118555 Human
Unigene: 375010 Mouse
Unigene: 481403 Mouse
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