LTBP4 - latent transforming growth factor beta binding protein 4 Gene

Homo sapiens

Also known as ARCL1C; LTBP-4; LTBP4L; LTBP4S

Gene ID: 8425 | Gene type: protein coding

About LTBP4

Cytogenetic location: 19q13.2 Genomic coordinates (GRCh38): 19:40,593,166-40,629,820 (from NCBI)

This gene has 39 transcripts (splice variants), 194 orthologues, 3 paralogues and is associated with 3 phenotypes. Broad expression in prostate (RPKM 61.4), endometrium (RPKM 53.8) and 22 other tissues.

Summary

The protein encoded by this gene binds transforming growth factor beta (TGFB) as it is secreted and targeted to the extracellular matrix. TGFB is biologically latent after secretion and insertion into the extracellular matrix, and sheds TGFB and other proteins upon activation. Defects in this gene may be a cause of cutis laxa and severe pulmonary, gastrointestinal, and urinary abnormalities. Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2010]

LTBP4 Products(3)

mRNA	Protein	Name
NM_001042544.1	NP_001036009.1	latent-transforming growth factor beta-binding protein 4 isoform a precursor
NM_001042545.2	NP_001036010.1	latent-transforming growth factor beta-binding protein 4 isoform c precursor
NM_003573.2	NP_003564.2	latent-transforming growth factor beta-binding protein 4 isoform b

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	12429738	GOA
enables transforming growth factor beta binding	IDA IDA: Inferred from direct assay	9660815	GOA
enables transforming growth factor beta binding	IPI IPI: Inferred from physical interaction	10930463	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in collagen-containing extracellular matrix	IDA IDA: Inferred from direct assay	16157329	GOA
located in extracellular matrix	IDA IDA: Inferred from direct assay	9660815	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

LTBP4 Protein Structure

EGF_CA

0
300
600
900
1200
1500
1623 a.a.

Protein Preferred Names

Protein Names

latent-transforming growth factor beta-binding protein 4

latent transforming growth factor-beta binding protein 4L

Related Diseases

Diseases

Alias

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

Cutis Laxa

Generalized Elastolysis	Loose Skin
Dermatolysis	Dermatomegaly
Cutis Laxa Syndrome

Muscular Dystrophy, Duchenne Type

Duchenne Muscular Dystrophy	DMD
Muscular Dystrophy, Duchenne	Muscular Dystrophy, Pseudohypertrophic Progressive, Duchenne Type
Severe Dystrophinopathy, Duchenne Type	Muscular Dystrophy Duchenne
Dystrophy, Muscular, Duchenne Type	Benign Duchenne Muscular Dystrophy
Duchenne Motor Neuron Disease	Duchenne Type Dystrophy
Duchenne-Griesinger Disease

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

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

Scoliosis

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

Muscular Dystrophy

Muscular Dystrophies	Congenital Md
Congenital Muscular Dystrophy	Cmd
Mdc	Dystrophy, Muscular
Gower'S Muscular Dystrophy	Progressive Musclular Dystrophy
Pseudohypertrophic Atrophy	Pseudohypertrophic Muscle Paralysis
Pseudohypertrophic Muscular Atrophy	Pseudohypertrophic Muscular Dystrophy
Pseudohypertrophic Paralysis	Pseudomuscular Hypertrophy

Cutis Laxa, Autosomal Recessive, Type Iiib

ARCL3B	De Barsy Syndrome B
Pycr1-Related De Barsy Syndrome	Autosomal Recessive Cutis Laxa Type Iiib
Pycr1 Deficiency	Pyrroline-5-Carboxylate Reductase 1 Deficiency
Cutis Laxa, Autosomal Recessive, 3b	Cutis Laxa Autosomal Recessive Type Iiib
Cutis Laxa, Autosomal Recessive, Type 3b

Cutis Laxa, Autosomal Recessive, Type Iiia

ARCL3A	De Barsy Syndrome A
Aldh18a1-Related De Barsy Syndrome	Progeroid Syndrome Of De Barsy
Autosomal Recessive Cutis Laxa Type Iiia	P5cs Deficiency
De Barsy Syndrome	Cutis Laxa, Corneal Clouding, And Mental Retardation
Delta-1-Pyrroline 5-Carboxylate Synthetase Deficiency	Neurocutaneous Syndrome, Bicknell Type
Cutis Laxa Corneal Clouding Mental Retardation	Progeroid Syndrome De Barsy Type
Cutis Laxa, Autosomal Recessive, 3a	Cutis Laxa Autosomal Recessive Type Iiia
Developmental Delay-Choreoathetosis-Joint Dislocation-Lax Skin	Neurocutaneous Syndrome Bicknell Type
Corneal Clouding Cutis Laxa Mental Retardation

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

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

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

Bladder Diverticulum

Diverticulum Of Bladder	Diverticulum - Bladder
Bladder Diverticula	Vesical Diverticulum
Bladder Sacculation

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

Dental Anomalies And Short Stature

Brachyolmia-Amelogenesis Imperfecta Syndrome	Platyspondyly With Amelogenesis Imperfecta
DASS	Verloes Bourguignon Syndrome
Verloes-Bourguignon Syndrome	Vbs
Sthag6	Tooth Agenesis, Selective, 6
Tooth Agenesis, Selective, 6, Formerly	Sthag6, Formerly
Selective Tooth Agenesis 5	Amelogenesis Imperfecta And Platyspondyly
Skeletal Dysplasia With Amelogenesis Imperfecta And Platyspondyly	Platyspondyly-Amelogenesis Imperfecta Syndrome

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

Geroderma Osteodysplasticum

Gerodermia Osteodysplastica	Geroderma Osteodysplastica
GO	Walt Disney Dwarfism
Type Of Gerodermia Osteodysplastica

Arterial Tortuosity Syndrome

Arterial Tortuosity	Ats
ATORS	Tortuosity, Arterial, Syndrome

Stiff Skin Syndrome

SSKS	Stiff Skin

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

Tracheomalacia

Congenital Tracheomalacia	Congenital Major Airway Collapse
Tracheomalacia, Congenital	Type 1 Tracheomalacia

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

Inguinal Hernia

Hernia Inguinal	Hernia, Inguinal
Inguinal Hernias	Bubonocele
Indirect Inguinal Hernia	Direct Inguinal Hernia
Oblique Inguinal Hernia	Scrotal Hernia
Ih - [Inguinal Hernia]

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

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

Geleophysic Dysplasia

Geleophysic Dwarfism

Gphysd

Loeys-Dietz Syndrome

Loeys-Dietz Aortic Aneurysm Syndrome	Lds
Aortic Aneurysm Syndrome Due To Tgf-Beta Receptors Anomalies	Furlong Syndrome

Diaphragmatic Hernia, Congenital

Congenital Diaphragmatic Hernia	Diaphragmatic Hernia
Cdh	Congenital Diaphragmatic Defect
Hernia, Diaphragmatic	Dih
Hernia, Congenital Diaphragmatic	Hcd
Diaphragmatic Defect, Congenital	Diaphragm, Unilateral Agenesis Of
Hemidiaphragm, Agenesis Of	Diaphragmatic Hernia 1
Agenesis Of Hemidiaphragm	Unilateral Agenesis Of Diaphragm
Hernia Diaphragmatic	Hernia Diaphragmatic Congenital
Hernia, Diaphragmatic, Type 1	Hiatus Hernia
Oesophageal Hiatus Hernia	Paraoesophageal Hernia
Sliding Hiatus Hernia	Congenital Diaphragm Hernia
Congenital Diaphragm Defect With Hernia	Gross Congenital Diaphragm Defect

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

Autosomal Recessive Limb-Girdle Muscular Dystrophy

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive

Patent Foramen Ovale

Atrial Septal Defect Within Oval Fossa	Foramen Ovale Patent
Ostium Secundum Atrial Septal Defect	Atrial Septal Defect, Ostium Secundum Type
Foramen Ovale, Patent	Defect, Patent Or Persistent, Ostium Secundum
Ostium Secundum Type Atrial Septal Defect	Persistent Ostium Secundum
Asd Ostium Secundum Type	Ostium Secundum Asd
Osasd	Asd, Ostium Secundum Type
Pfo - [Patent Foramen Ovale]	Open Foramen Ovale
Open Oval Foramen	Persistent Foramen Ovale
Secundum Atrial Septal Defect

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-RS07880	LTBP4 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	LTBP4	VGNC	VGNC:31074
Macaca mulatta	LTBP4	VGNC	VGNC:74459
Felis catus	LTBP4	VGNC	VGNC:68104
Mus musculus	LTBP4	MGD	MGI:1321395
Canis familiaris	LTBP4	VGNC	VGNC:42859
Rattus norvegicus	LTBP4	RGD	RGD:1307033