FBN3 - fibrillin 3 Gene

Homo sapiens

Gene ID: 84467 | Gene type: protein coding

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

Bioactive Molecules (1)

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

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