FBN3

This gene encodes a memebr of the fibrillin protein family. Fibrillins are extracellular matrix molecules that assemble into microfibrils in many connective tissues. This gene is most highly expressed in fetal tissues and its protein product is localized to extracellular microfibrils of developing skeletal elements, skin, lung, kidney, and skeletal muscle. This gene is potentially involved in Weill-Marchesani syndrome. [provided by RefSeq, Mar 2016]

Description

Fibrillin 3

Tissue specificity

Tissue enhanced (kidney, salivary gland)

Predicted location

Intracellular, Secreted to extracellular matrix

Protein family

Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins
Predicted secreted proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

19 (8065402 - 8149592)

Ensembl ID

ENSG00000142449  (ver. 103.38)

Orthologs

-

UniProt

Q75N90

neXtProt

NX_Q75N90

Human splice variants

Protein structure