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FBN3 - fibrillin 3 Gene

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 84467

About FBN3

Cytogenetic location: 19p13.2 Genomic coordinates (GRCh38): 19:8,065,402-8,149,592 (from NCBI)

This gene has 9 transcripts (splice variants), 76 orthologues and 2 paralogues. Low expression observed in reference dataset.

Summary

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]

FBN3 Products (2)

mRNA	Protein	Name
NM_001321431.2	NP_001308360.1	fibrillin-3 precursor
NM_032447.5	NP_115823.3	fibrillin-3 precursor

FBN3 Protein Structure

EGF_CA

EGF

EGF_CA

FXa_inhibition

EGF_CA

0
500
1000
1500
2000
2500
2809 a.a.

Protein Preferred Names	Protein Names
fibrillin-3

Related Diseases

Diseases	Alias
Weill-Marchesani Syndrome	Gemss Syndrome Spherophakia-Brachymorphia Syndrome Marchesani-Weill Syndrome Wms Congenital Mesodermal Dystrophy Mesodermal Dysmorphodystrophy, Congenital Spherophakia Brachymorphia Syndrome Mesodermal Dysmorphodystrophy Congenital Wm Syndrome Brachydactyly-Spherophakia Syndrome Brachymorphy With Spherophakia Syndrome Congenital Mesodermal Dysmorphodystrophy Marchesani Syndrome Weill-Marchesani Syndrome, Autosomal Recessive Weill-Marchesani Syndrome, Autosomal Dominant
Marfan Syndrome	MFS Mfs1 Marfan'S Syndrome Marfan Syndrome Type 1 Marfan Syndrome, Type I Mass Phenotype Contractural Arachnodactyly Mass Syndrome Octd Overlap Connective Tissue Disease Marfanoid Hypermobility Syndrome Marfan Disease
Contractural Arachnodactyly, Congenital	Congenital Contractural Arachnodactyly Beals Syndrome CCA Beals-Hecht Syndrome Distal Arthrogryposis Type 9 Arthrogryposis, Distal, Type 9 Da9 Arachnodactyly, Contractural Beals Type Contractures, Multiple With Arachnodactyly Ear Anomalies-Contractures-Dysplasia Of Bone With Kyphoscoliosis Arthrogyroposis, Distal, Type 9 Distal Arthrogyropsis Type 9 Cca Syndrome Arachnodactyly
Senile Ectropion	Involutional Ectropion
Acromicric Dysplasia	ACMICD Acromicric Skeletal Dysplasia Dysplasia, Acromicric
Isolated Ectopia Lentis	Familial Ectopia Lentis Ectopia Lentis Ectopia Lentis Syndrome Lens Subluxation Iel Congenital Ectopia Lentis Subluxation Of Lens Ectopia Lentis, Isolated Ectopia Lentis Isolated
Geleophysic Dysplasia	Geleophysic Dwarfism Gphysd
Scoliosis

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04778	FBN3 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown