FBN3 - fibrillin 3 Gene

中文名称：原纤维蛋白 3

种属: Homo sapiens

基因 ID: 84467 | 基因类型: protein coding

关于 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.

功能概要

该基因编码原纤维蛋白家族的一个成员。原纤维蛋白是细胞外基质分子，可在许多结缔组织中组装成微纤维。该基因在胎儿组织中表达最高，其蛋白质产物定位于发育中的骨骼元件、皮肤、肺、肾和骨骼肌的细胞外微纤维。该基因可能与 Weill-Marchesani 综合征有关。[RefSeq 提供，2016 年 3 月]

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 基因产物(2)

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

FBN3 蛋白结构

EGF_CA

EGF

EGF_CA

FXa_inhibition

EGF_CA

0
500
1000
1500
2000
2500
2809 a.a.

蛋白主名

其他名称

fibrillin-3

关联疾病

疾病名称

别名

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

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FBN3 - fibrillin 3 Gene

关于 FBN3

功能概要

FBN3 基因产物(2)

FBN3 蛋白结构

关联疾病

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FBN3 - fibrillin 3 Gene

关于 FBN3

功能概要

FBN3 基因产物(2)

FBN3 蛋白结构

关联疾病

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热门区域

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