FBLN5 - fibulin 5 Gene

Also Known as EVEC; UP50; ADCL2; ARMD3; CMT1H; DANCE; ARCL1A; FIBL-5; HNARMD

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 10516

About FBLN5

Cytogenetic location: 14q32.12 Genomic coordinates (GRCh38): 14:91,869,411-91,947,694 (from NCBI)

This gene has 9 transcripts (splice variants), 193 orthologues, 6 paralogues and is associated with 10 phenotypes. Broad expression in gall bladder (RPKM 67.7), spleen (RPKM 57.2) and 24 other tissues.

Summary

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. Defects in this gene are a cause of autosomal dominant cutis laxa, autosomal recessive cutis laxa type I (CL type I), and age-related macular degeneration type 3 (ARMD3). [provided by RefSeq, Jul 2008]

FBLN5 Products (6)

mRNA Protein Name
NM_001384158.1 NP_001371087.1 fibulin-5 isoform 2 precursor
NM_001384159.1 NP_001371088.1 fibulin-5 isoform 3 precursor
NM_001384160.1 NP_001371089.1 fibulin-5 isoform 4 precursor
NM_001384161.1 NP_001371090.1 fibulin-5 isoform 5
NM_001384162.1 NP_001371091.1 fibulin-5 isoform 6
NM_006329.4 NP_006320.2 fibulin-5 isoform 1 precursor
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
15528465 GOA
enables protein homodimerization activity IDA
IDA: Inferred from direct assay
19617354 GOA
Biological Process GO Annotation Evidence References Source
involved in elastic fiber assembly IMP
IMP: Inferred from mutant phenotype
17035250 GOA
involved in secretion IDA
IDA: Inferred from direct assay
20599547 GOA
Cellular Component GO Annotation Evidence References Source
located in collagen-containing extracellular matrix IDA
IDA: Inferred from direct assay
17035250 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

FBLN5 Protein Structure

EGF_CA

EGF_CA: Calcium-binding EGF domain (42 - 69)

EGF_CA

EGF_CA: Calcium-binding EGF domain (127 - 164)

cEGF

cEGF: Complement Clr-like EGF-like (187 - 210)

FXa_inhibition

FXa_inhibition: Coagulation Factor Xa inhibitory site (257 - 286)

EGF_CA

EGF_CA: Calcium-binding EGF domain (288 - 328)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 448 a.a.
Protein Preferred Names Protein Names

fibulin-5

  • developmental arteries and neural crest EGF-like protein

FBLN5 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
FBLN5 Q9UBX5 NUFIP2 Homo sapiens Q7Z417 21653829
Intra
FBLN5 Q9UBX5 NUFIP2 Homo sapiens Q7Z417 33961781
Intra
FBLN5 Q9UBX5 ELN Homo sapiens P15502 19570982
Intra
FBLN5 Q9UBX5 ELN Homo sapiens P15502
SPR
19570982
Intra
FBLN5 Q9UBX5 FBN1 Homo sapiens P35555 19570982
Intra
FBLN5 Q9UBX5 TRIP13 Homo sapiens Q15645 25910212
Intra
FBLN5 Q9UBX5 TRIP13 Homo sapiens Q15645 25910212
Intra
FBLN5 Q9UBX5 TRIP13 Homo sapiens Q15645 25910212
Intra
FBLN5 Q9UBX5 LOX Homo sapiens P28300 19570982
Intra
FBLN5 Q9UBX5 LOX Homo sapiens P28300
Y2H
25118846
Intra
FBLN5 Q9UBX5 OTX1 Homo sapiens P32242 25910212
Intra
FBLN5 Q9UBX5 OTX1 Homo sapiens P32242 25910212
Intra
FBLN5 Q9UBX5 OTX1 Homo sapiens P32242 25910212
Intra
FBLN5 Q9UBX5 EFEMP2 Homo sapiens O95967 19570982
Intra
FBLN5 Q9UBX5 MEOX2 Homo sapiens P50222 25910212
Intra
FBLN5 Q9UBX5 MEOX2 Homo sapiens P50222 25910212
Intra
FBLN5 Q9UBX5 MEOX2 Homo sapiens P50222 25910212
Cross: Cross-species interaction Intra: Intraspecies interaction

FBLN5 Antibodies

Cat. No. 상품명 신청 Reactivity
HY-P82703 Fibulin 5 Antibody (YA2448) WB Human, Mouse
HY-P84858 Fibulin 5 Antibody (YA4555) IHC-P, ELISA Human
HY-P84858A Fibulin 5 Antibody (YA4555)(PBS only) IHC-P, ELISA Human
HY-P85166 Fibulin 5 Antibody (YA4858) WB, IHC-P, ICC/IF, ELISA Human

Related Diseases

Diseases Alias
Macular Degeneration, Age-Related, 3
  • ARMD3

  • Neuropathy, Hereditary, With Or Without Age-Related Macular Degeneration

Cutis Laxa, Autosomal Recessive, Type Ia
  • ARCL1A

  • Cutis Laxa, Autosomal Recessive

  • Autosomal Recessive Cutis Laxa Type Ia

  • Cutis Laxa, Autosomal Recessive, Type 1a

  • Arcl1

  • Cutis Laxa, Autosomal Recessive, 1a

  • Cl Type I

  • Cutis Laxa Autosomal Recessive Type I

  • Cutis Laxa Autosomal Recessive Type Ia

  • Cutis Laxa, Autosomal Recessive, Type I

Charcot-Marie-Tooth Disease, Demyelinating, Type 1h
  • Hereditary Motor And Sensory Neuropathy, Ih

  • Neuropathy, Hereditary, With Or Without Age-Related Macular Degeneration

  • CMT1H

  • Charcot-Marie-Tooth Neuropathy, Type 1h

  • Hnarmd

  • Charcot-Marie-Tooth Disease, Demyelinating, 1h

  • Macular Degeneration, Age-Related, 3

Cutis Laxa, Autosomal Dominant 2
  • ADCL2

  • Autosomal Dominant Cutis Laxa 2

  • Cutis Laxa, Autosomal Dominant, 2

  • Cutis Laxa, Autosomal Dominant, Type 2

Cutis Laxa, Autosomal Dominant 1
  • Cutis Laxa, Autosomal Dominant

  • Autosomal Dominant Cutis Laxa

  • ADCL1

  • Adcl

  • Autosomal Dominant Cutis Laxa 1

  • Cutis Laxa, Autosomal Dominant, 1

  • Cutis Laxa, Autosomal Dominant, Type 1

Fbln5-Related Cutis Laxa
Autosomal Recessive Cutis Laxa Type I
  • Autosomal Recessive Cutis Laxa Type 1

  • Cutis Laxa, Type 1

  • Cutis Laxa, Autosomal Recessive, Type I

  • Cutis Laxa, Autosomal Recessive Type 1

  • Cutis Laxa, Autosomal Recessive

  • Arcl1

  • Autosomal Recessive Cutis Laxa With Severe Systemic Involvement

  • Autosomal Recessive Cutis Laxa, Pulmonary Emphysema Type

Hereditary Sensorimotor Neuropathy With Hyperelastic Skin
Cutis Laxa
  • Generalized Elastolysis

  • Loose Skin

  • Dermatolysis

  • Dermatomegaly

  • Cutis Laxa Syndrome

Pelvic Organ Prolapse
  • Rectal Prolapse

  • Pelvic Organ Prolapse, Susceptibility To, 1

  • Pelvic Organ Prolapse, Susceptibility To

  • Prolapse Of Vagina And Rectum

  • Vaginal Prolapse

  • Pelvic Organ Prolapse 1

  • Procidentia, Rectum

  • Prolapse Of Rectal Mucosa

  • Procidentia Of Rectum

  • Rectal Mucosa Prolapse

  • Rectum Prolapse

  • Procidentia Rectum

  • Rp - [Rectal Prolapse]

  • Male Proctocele

  • Male Rectocele

  • Proctoptosis

  • Female Genital Prolapse

  • Female Prolapse

  • Incompetence Of Pelvic Fundus

  • Relaxation Of Perineum

  • Deficiency Of Perineum

Aortic Aneurysm
  • Aortic Rupture

  • Thoracoabdominal Aortic Aneurysm, Ruptured

  • Ruptured Aortic Aneurysm

  • Aortic Aneurysms

  • Aortic Aneurysm Without Mention Of Rupture Nos

  • Ruptured Abdominal Aortic Aneurysm

  • Aortic Aneurysm, Ruptured

  • Ruptured Thoracic Aortic Aneurysm

Supravalvular Aortic Stenosis
  • SVAS

  • Supravalvar Aortic Stenosis

  • Supravalvar Aortic Stenosis, Eisenberg Type

  • Aortic Supravalvular Stenosis

  • Aortic Stenosis, Supravalvular

  • Supra-Valvular Aortic Stenosis

  • Stenosis, Aortic Supravalvular

  • Stenosis, Supravalvular Aortic

  • Supravalvular Stenosis, Aortic

  • Aortic Stenosis Supravalvular

Macs Syndrome
  • Macrocephaly, Alopecia, Cutis Laxa, And Scoliosis

  • Mycobacterium Avium Complex Disease

  • Rin2 Syndrome

  • Mycobacterium Avium-Intracellulare Infection

  • Tall Forehead, Sparse Hair, Skin Hyperextensibility, And Scoliosis

  • Mycobacterium Avium Complex

  • Mycobacterium Avium Infection

  • Infection Due To Mycobacterium Intracellulare

  • Mac Disease

  • Macrocephaly-Alopecia-Cutis Laxa-Scoliosis Syndrome

  • Rin2 Deficiency

  • Tall Forehead-Sparse Hair-Skin Hyperextensibility-Scoliosis Syndrome

  • MACS

  • Macrocephaly Alopecia Cutis Laxa And Scoliosis Syndrome

Inguinal Hernia
  • Hernia Inguinal

  • Hernia, Inguinal

  • Inguinal Hernias

  • Bubonocele

  • Indirect Inguinal Hernia

  • Direct Inguinal Hernia

  • Oblique Inguinal Hernia

  • Scrotal Hernia

  • Ih - [Inguinal Hernia]

Aortic Dissection
Cutis Laxa, Autosomal Recessive, Type Ic
  • Cutis Laxa With Severe Pulmonary, Gastrointestinal, And Urinary Abnormalities

  • ARCL1C

  • Urban-Rifkin-Davis Syndrome

  • Cutis Laxa With Severe Pulmonary, Gastrointestinal And Urinary Anomalies

  • URDS

  • Autosomal Recessive Cutis Laxa Type Ic

  • Autosomal Recessive Cutis Laxa Type 1c

  • Cutis Laxa With Severe Pulmonary Gastrointestinal And Urinary Abnormalities

Basal Laminar Drusen
  • Drusen Of Bruch Membrane

  • Drusen, Cuticular

  • Drusen, Early Adult-Onset, Grouped

  • Cuticular Drusen

  • Early Adult-Onset Grouped Drusen

  • BLD

  • Drusen Cuticular

  • Drusen Early Adult-Onset Grouped

Cutis Laxa, Autosomal Recessive, Type Ib
  • ARCL1B

  • Cutis Laxa, Autosomal Recessive, Type 1b

  • Autosomal Recessive Cutis Laxa Type Ib

  • Lethal Arteriopathy Syndrome Due To Fibulin-4 Deficiency

  • Cutis Laxa, Autosomal Recessive, 1b

  • Cutis Laxa Autosomal Recessive Type Ib

Macular Degeneration, Age-Related, 1
  • Macular Degeneration

  • Age-Related Macular Degeneration

  • Macular Degeneration, Age-Related

  • Age Related Macular Degeneration

  • Age Related Macular Degeneration 1

  • ARMD1

  • Senile Macular Degeneration

  • Maculopathy, Age-Related, 1

  • Macular Degeneration, Age-Related, Reduced Risk Of

  • Age Related Maculopathy 1

  • Age Related Maculopathies

  • Age Related Maculopathy

  • Senile Macular Retinal Degeneration

  • Macular Degeneration Of Retina

  • Age-Related Maculopathy

  • Amd

  • Armd

  • Age-Related Maculopathy, Susceptibility To

  • Maculopathy Age-Related

  • Macular Degeneration, Age-Related, 1, Susceptibility To

  • Maculopathy, Age-Related

  • Macular Degeneration, Age-Related, Type 1

  • Macular Degeneration, Age-Related, 2

Charcot-Marie-Tooth Disease Type 1g
  • Pmp2-Related Charcot-Marie-Tooth Disease Type 1

  • Pmp2-Related Charcot-Marie-Tooth Neuropathy Type 1

  • Pmp2-Related Cmt1

  • Pmp2-Related Hereditary Motor And Sensory Neuropathy Type 1

  • Cmt1g

Doyne Honeycomb Retinal Dystrophy
  • DHRD

  • Doyne Honeycomb Degeneration Of Retina

  • Dhd

  • Malattia Leventinese

  • Ml

  • Mlvt

  • Dystrophy, Retinal, Doyne Honeycomb

Cutis Laxa, Autosomal Recessive, Type Iib
  • ARCL2B

  • Cutis Laxa With Progeroid Features

  • Autosomal Recessive Cutis Laxa Type 2b

  • Autosomal Recessive Cutis Laxa Type Iib

  • Arcl2, Progeroid Type

  • Cutis Laxa, Autosomal Recessive Type 2b

  • Autosomal Recessive Cutis Laxa Type 2, Progeroid Type

  • Cutis Laxa, Autosomal Recessive, 2b

  • Cl Type Iib

  • Cutis Laxa Autosomal Recessive Type Iib

  • Cutis Laxa, Autosomal Recessive, Type 2b

Autosomal Recessive Cutis Laxa Type Iii
  • De Barsy Syndrome

  • Cutis Laxa-Corneal Clouding-Intellectual Disability Syndrome

  • Progeroid Syndrome, De Barsy Type

  • Corneal Clouding, Cutis Laxa And Intellectual Disability

  • Cutis Laxa Growth Deficiency Syndrome

  • Progeroid Syndrome Of De Barsy

Pneumothorax
  • Pneumothorax Nos

  • Air Leak Nos

  • Pleural Air Leak Nos

Cutis Laxa, Autosomal Recessive, Type Iia
  • ARCL2A

  • Cutis Laxa With Joint Laxity And Retarded Development

  • Cutis Laxa With Growth And Developmental Delay

  • Cutis Laxa, Debre Type

  • Cutis Laxa With Bone Dystrophy

  • Arcl2

  • Cutis Laxa With Congenital Disorder Of Glycosylation

  • Autosomal Recessive Cutis Laxa Type Iia

  • Cutis Laxa, Autosomal Recessive Type 2a

  • Cutis Laxa, Autosomal Recessive, 2a

  • Cl Type Iia

  • Cutis Laxa Autosomal Recessive Type Iia

Retinal Drusen
Arterial Tortuosity Syndrome
  • Arterial Tortuosity

  • Ats

  • ATORS

  • Tortuosity, Arterial, Syndrome

Ureteric Orifice Cancer
  • Malignant Neoplasm Of Ureteric Orifice Of Urinary Bladder

  • Malignant Tumor Of Ureteric Orifice

  • Orifice Of The Ureter

Cardiomyopathy, Dilated, 1l
  • Dilated Cardiomyopathy 1l

  • CMD1L

  • Cardiomyopathy, Dilated 1l

  • Cardiomyopathy, Dilated, Type 1l

Autosomal Recessive Cutis Laxa Type Ii Classic Type
  • Arcl2, Classic Type

  • Arcl2, Debre Type

  • Autosomal Recessive Cutis Laxa Type 2, Classic Type

  • Autosomal Recessive Cutis Laxa Type 2, Debre Type

Occipital Horn Syndrome
  • OHS

  • Eds Ix

  • Cutis Laxa X-Linked

  • Cutis Laxa, X-Linked

  • Cutis Laxa, X-Linked, Formerly

  • Ehlers-Danlos Syndrome, Occipital Horn Type, Formerly

  • Eds Ix, Formerly

  • Eds9, Formerly

  • Ehlers-Danlos Syndrome Type 9

  • Ehlers-Danlos Syndrome Type Ix

  • X-Linked Cutis Laxa

  • Ehlers-Danlos Syndrome, Occipital Horn Type

  • Eds9

  • Ehlers-Danlos Syndrome Occipital Horn Type

Geroderma Osteodysplasticum
  • Gerodermia Osteodysplastica

  • Geroderma Osteodysplastica

  • GO

  • Walt Disney Dwarfism

  • Type Of Gerodermia Osteodysplastica

Phacogenic Glaucoma
Ehlers-Danlos Syndrome, Vascular Type
  • Eds Iv

  • Eds4

  • Vascular Ehlers-Danlos Syndrome

  • Veds

  • Sack-Barabas Syndrome

  • EDSVASC

  • Ehlers-Danlos Syndrome, Type Iv, Autosomal Dominant

  • Vascular Type Ehlers-Danlos Syndrome

  • Arterial-Ecchymotic Eds

  • Ehlers-Danlos Syndrome Type 4

  • Vascular Eds

  • Ehlers-Danlos Syndrome, Type 4

  • Ehlers-Danlos Syndrome, Type Iv

  • Ehlers-Danlos Syndrome, Arterial Type

  • Ehlers-Danlos Syndrome, Ecchymotic Type

  • Ehlers-Danlos Syndrome, Sack-Barabas Type

  • Autosomal Dominant Type Iv Ehlers-Danlos Syndrome

  • Eds Type Iv

  • Eds Type 4

  • Ehlers Danlos Syndrome, Sack-Barabas Type

  • Ehlers Danlos Syndrome, Arterial Type

  • Ehlers Danlos Syndrome, Ecchymotic Type

  • Ehlers-Danlos Syndrome Type Iv

  • Ehlers-Danlos Syndrome 4

  • Ehlers-Danlos Syndrome Arterial Type

  • Ehlers-Danlos Syndrome Ecchymotic Type

  • Ehlers-Danlos Syndrome, Type 4 Variant

  • Ehlers-Danlos, Vascular Type Syndrome

Bladder Diverticulum
  • Diverticulum Of Bladder

  • Diverticulum - Bladder

  • Bladder Diverticula

  • Vesical Diverticulum

  • Bladder Sacculation

Connective Tissue Disease
  • Connective Tissue Diseases

  • Connective Tissue Disorder

  • Abnormality Of Connective Tissue

  • Disorder Of Connective Tissue

  • Connective Tissue Disorders

Tibialis Tendinitis
Charcot-Marie-Tooth Disease And Deafness
  • Charcot-Marie-Tooth Disease Type 1e

  • CMT1E

  • Charcot-Marie-Tooth Disease Type 1

  • Hereditary Motor And Sensory Neuropathy Type 1

  • Charcot-Marie-Tooth Disease, Demyelinating, Type 1e

  • Charcot-Marie-Tooth Disease, Type I

  • Charcot-Marie-Tooth Neuropathy And Deafness, Autosomal Dominant

  • Charcot-Marie-Tooth Disease, Type 1e

  • Charcot-Marie-Tooth Disease Demyelinating Type 1e

  • Autosomal Dominant Demyelinating Charcot-Marie-Tooth Disease

  • Cmt1

  • Charcot-Marie-Tooth Neuropathy Type 1

  • Autosomal Dominant Charcot-Marie-Tooth Neuropathy And Deafness

  • Charcot-Marie-Tooth Disease-Deafness

  • Charcot-Marie-Tooth Type 1

  • Hmsn1

  • Hereditary Motor And Sensory Neuropathy 1

  • Cmt 1e

  • Charcot Marie Tooth Disease Type 1e

  • Charcot-Marie-Tooth Disease-Deafness Syndrome

  • Charcot-Marie-Tooth Disease-Hearing Loss Syndrome

  • Charcot-Marie-Tooth Disease 1e

  • Charcot-Marie-Tooth Disease And Deafness Autosomal Dominant

  • Charcot-Marie-Tooth Neuropathy Type 1e

  • Charcot-Marie-Tooth Disease, Type Ie

  • Hereditary Motor And Sensory Neuropathy Type I

Eye Disease
  • Eye Diseases

  • Abnormality Of The Eye

  • Toxoplasma Oculopathy

Plethora Of Newborn
  • Neonatal Polycythemia

Charcot-Marie-Tooth Disease
  • Cmt

  • Hmsn

  • Hereditary Motor And Sensory Neuropathy

  • Pma

  • Cmt - Charcot-Marie-Tooth Disease

  • Charcot Marie Tooth Disease

  • Charcot-Marie-Tooth Hereditary Neuropathy

  • Charcot-Marie-Tooth Syndrome

  • Peroneal Muscular Atrophy

  • Hereditary Motor And Sensory Neuropathies

Macular Degeneration, Age-Related, 4
  • Age Related Macular Degeneration 4

  • ARMD4

  • Macular Degeneration, Age-Related, Type 4

Loeys-Dietz Syndrome
  • Loeys-Dietz Aortic Aneurysm Syndrome

  • Lds

  • Aortic Aneurysm Syndrome Due To Tgf-Beta Receptors Anomalies

  • Furlong Syndrome

Scoliosis
Wrinkly Skin Syndrome
  • WSS

  • Wrinkled Skin Syndrome

Aortic Aneurysm, Familial Thoracic 1
  • Thoracic Aortic Aneurysm

  • Annuloaortic Ectasia

  • Familial Thoracic Aortic Aneurysm And Aortic Dissection

  • Familial Aortic Dissection

  • Familial Taad

  • Familial Thoracic Aortic Aneurysm

  • Congenital Aneurysm Of Ascending Aorta

  • Familial Aortic Aneurysm

  • Familial Thoracic Aortic Aneurysm And Dissection

  • Aortic Aneurysm, Thoracic

  • AAT1

  • Faa1

  • Aortic Dissection, Familial

  • Aortic Aneurysm, Familial Thoracic

  • Aneurysm, Thoracic Aortic

  • Faa

  • Ftaad

  • Taa

  • Taad

  • Cystic Medial Necrosis Of Aorta

  • Familial Non-Syndromic Thoracic Aortic Aneurysm And Aortic Dissection

  • Aortic Aneurysm Thoracic

  • Familial Aortic Aneurysms

  • Aneurysm, Aortic, Thoracic, Familial, Type 1

  • Aneurysm Of Thoracic Aorta

  • Intrathoracic Aneurysm

  • Thoracic Aorta Aneurysm

  • Thoracic Aortic Aneurysm Without Rupture

  • Thoracic Aneurysm

  • Thorax Arterial Aneurysm

  • Thoracic Artery Aneurysm

  • Thoracic Arterial Aneurysm

  • Thorax Aneurysm

  • Thorax Aortic Aneurysm

  • Dissection Of Thoracic Aorta

Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
  • Charcot-Marie-Tooth Disease Type 4

  • Charcot-Marie-Tooth Disease Type 4e

  • Hereditary Motor And Sensory Neuropathy

  • Cmt4e

  • CHN1

  • Hypomyelinating Neuropathy, Congenital, 1

  • Charcot-Marie-Tooth Neuropathy Type 4e

  • Neuropathy, Congenital Hypomyelinating, 1

  • Ar-Cmt1

  • Autosomal Recessive Demyelinating Charcot-Marie-Tooth

  • Cmt4

  • Neuropathy, Congenital Hypomyelinating Or Amyelinating, Autosomal Recessive

  • Hypomyelination, Severe Congenital

  • Charcot-Marie-Tooth Disease, Type 4e

  • Charcot-Marie-Tooth Neuropathy, Type 4e

  • Autosomal Recessive Congenital Hypomyelinating Or Amyelinating Neuropathy

  • Autosomal Recessive Congenital Hypomyelinating Neuropathy

  • Congenital Amyelinating Neuropathy

  • Congenital Hypomyelinating Neuropathy Autosomal Recessive

  • Neuropathy, Congenital Hypomyelinating Or Amyelinating

  • Severe Congenital Hypomyelination

  • Hereditary Sensory Motor Neuropathy

  • Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive

  • Neuropathy, Hypomyelinating, Congenital, Type 1

  • Neuropathy, Motor And Sensory, Hereditary

  • Congenital Hypomyelinating Neuropathy

  • Hereditary Motor And Sensory Neuropathies

  • Hereditary Sensorimotor Neuropathy

  • Hmsn - [Hereditary Motor And Sensory Neuropathy]

  • Hsmn - [Hereditary Sensory And Motor Neuropathy]

  • Hereditary Motor And Sensory Neuropathy, Types I-Iv

Ehlers-Danlos Syndrome
  • Eds

  • Cutis Hyperelastica

  • Elastic Skin

  • Ehlers-Danlos Syndromes

  • Ed Syndrome

  • Ehlers Danlos Syndrome

  • Ehlers Danlos Disease

  • Eds - [Ehlers-Danlos Syndrome]

Williams-Beuren Syndrome
  • Williams Syndrome

  • WBS

  • Wms

  • Deletion 7q11.23

  • Monosomy 7q11.23

  • Chromosome 7q11.23 Deletion Syndrome, 1.5- To 1.8-Mb

  • Fanconi Schlesinger Syndrome

  • Beuren Syndrome

  • Elfin Facies Syndrome

  • Elfin Facies With Hypercalcemia

  • Hypercalcemia-Supravalvar Aortic Stenosis

  • Ws

Fundus Dystrophy
  • Retinal Dystrophy

  • Retinal Dystrophies

  • Dystrophy, Retinal

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

Orthologs Information

Species Symbol Source ID
Rattus norvegicus FBLN5 RGD RGD:2594
Canis familiaris FBLN5 VGNC VGNC:40752
Felis catus FBLN5 VGNC VGNC:62168
Bos taurus FBLN5 VGNC VGNC:28883
Macaca mulatta FBLN5 VGNC VGNC:72622
Mus musculus FBLN5 MGD MGI:1346091
Others FBLN5 NCBI