FBLN5

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Fibulin 5
Identifiers
Symbols FBLN5 ; ADCL2; ARCL1A; ARMD3; DANCE; EVEC; FIBL-5; UP50
External IDs OMIM604580 MGI1346091 HomoloGene38170 GeneCards: FBLN5 Gene
RNA expression pattern
PBB GE FBLN5 203088 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 10516 23876
Ensembl ENSG00000140092 ENSMUSG00000021186
UniProt Q9UBX5 Q9WVH9
RefSeq (mRNA) NM_006329 NM_011812
RefSeq (protein) NP_006320 NP_035942
Location (UCSC) Chr 14:
92.34 – 92.41 Mb
Chr 12:
101.75 – 101.82 Mb
PubMed search [1] [2]

Fibulin-5 is a protein that in humans is encoded by the FBLN5 gene.[1][2]

The protein encoded by this gene is a secreted, extracellular matrix protein containing an Arg-Gly-Asp (RGD) motif and calcium-binding EGF-like domains. It promotes adhesion of endothelial cells through interaction of integrins and the RGD motif. It is prominently expressed in developing arteries but less so in adult vessels. However, its expression is reinduced in balloon-injured vessels and atherosclerotic lesions, notably in intimal vascular smooth muscle cells and endothelial cells. Therefore, the protein encoded by this gene may play a role in vascular development and remodeling.[2]

Interactions[edit]

FBLN5 has been shown to interact with LOXL1.[3]

Clinical relevance[edit]

FBLN5 mutations have been described in patients with age-related macular degeneration, as well as being involved in Charcot-Marie-Tooth neuropathies.[4]

References[edit]

  1. ^ Kowal RC, Jolsin JM, Olson EN, Schultz RA (May 2000). "Assignment of fibulin-5 (FBLN5) to human chromosome 14q31 by in situ hybridization and radiation hybrid mapping". Cytogenet Cell Genet 87 (1–2): 2–3. doi:10.1159/000015382. PMID 10640802. 
  2. ^ a b "Entrez Gene: FBLN5 fibulin 5". 
  3. ^ Liu, Xiaoqing; Zhao Yun; Gao Jiangang; Pawlyk Basil; Starcher Barry; Spencer Jeffrey A; Yanagisawa Hiromi; Zuo Jian; Li Tiansen (Feb 2004). "Elastic fiber homeostasis requires lysyl oxidase-like 1 protein". Nat. Genet. (United States) 36 (2): 178–82. doi:10.1038/ng1297. ISSN 1061-4036. PMID 14745449. 
  4. ^ Auer-Grumbach, M; Weger, M, Fink-Puches, R, Papic, L, Fröhlich, E, Auer-Grumbach, P, El Shabrawi-Caelen, L, Schabhüttl, M, Windpassinger, C, Senderek, J, Budka, H, Trajanoski, S, Janecke, AR, Haas, A, Metze, D, Pieber, TR, Guelly, C (May 15, 2011). "Fibulin-5 mutations link inherited neuropathies, age-related macular degeneration and hyperelastic skin". Brain : a journal of neurology 134 (Pt 6): 1839–52. doi:10.1093/brain/awr076. PMID 21576112. 

External links[edit]

Further reading[edit]