FSCN2

fascin actin-bundling protein 2, retinal

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

Acts as an actin bundling protein. May play a pivotal role in photoreceptor cell-specific events, such as disk morphogenesis.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Retinitis pigmentosa 30

From UniProt:

Retinitis pigmentosa 30 (RP30): A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. 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. [MIM:607921]

Cytogenetic Location: 17q25, which is the long (q) arm of chromosome 17 at position 25

Molecular Location: base pairs 81,513,019 to 81,537,130 on chromosome 17 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 17q25, which is the long (q) arm of chromosome 17 at position 25
  • RFSN
  • RP30