1. Gene
  2. VLDLR - very low density lipoprotein receptor Gene

VLDLR - very low density lipoprotein receptor Gene

Homo sapiens

Also known as CAMRQ1; CARMQ1; CHRMQ1; VLDL-R; VLDLRCH

Gene ID: 7436 | Gene type: protein coding

About VLDLR

Cytogenetic location: 9p24.2 Genomic coordinates (GRCh38): 9:2,621,787-2,660,056 (from NCBI)

This gene has 32 transcripts (splice variants), 213 orthologues, 14 paralogues and is associated with 3 phenotypes. Broad expression in ovary (RPKM 37.5), heart (RPKM 20.5) and 18 other tissues.

Summary

The low density lipoprotein receptor (LDLR) gene family consists of cell surface proteins involved in receptor-mediated endocytosis of specific ligands. This gene encodes a lipoprotein receptor that is a member of the LDLR family and plays important roles in VLDL-triglyceride metabolism and the reelin signaling pathway. Mutations in this gene cause VLDLR-associated cerebellar hypoplasia. Alternative splicing generates multiple transcript variants encoding distinct isoforms for this gene. [provided by RefSeq, Aug 2009]

VLDLR Products(4)

mRNA Protein Name
NM_001018056.3 NP_001018066.1 very low-density lipoprotein receptor isoform b precursor
NM_001322225.2 NP_001309154.1 very low-density lipoprotein receptor isoform c precursor
NM_001322226.2 NP_001309155.1 very low-density lipoprotein receptor isoform d precursor
NM_003383.5 NP_003374.3 very low-density lipoprotein receptor isoform a precursor

VLDLR Protein Structure

Ldl_recept_a

Ldl_recept_a: Low-density lipoprotein receptor domain class A (32 - 67)

Ldl_recept_a

Ldl_recept_a: Low-density lipoprotein receptor domain class A (70 - 108)

Ldl_recept_a

Ldl_recept_a: Low-density lipoprotein receptor domain class A (112 - 149)

Ldl_recept_a

Ldl_recept_a: Low-density lipoprotein receptor domain class A (153 - 188)

Ldl_recept_a

Ldl_recept_a: Low-density lipoprotein receptor domain class A (191 - 229)

Ldl_recept_a

Ldl_recept_a: Low-density lipoprotein receptor domain class A (238 - 273)

Ldl_recept_a

Ldl_recept_a: Low-density lipoprotein receptor domain class A (277 - 312)

Ldl_recept_a

Ldl_recept_a: Low-density lipoprotein receptor domain class A (317 - 355)

FXa_inhibition

FXa_inhibition: Coagulation Factor Xa inhibitory site (360 - 394)

EGF_CA

EGF_CA: Calcium-binding EGF domain (396 - 431)

Ldl_recept_b

Ldl_recept_b: Low-density lipoprotein receptor repeat class B (481 - 522)

Ldl_recept_b

Ldl_recept_b: Low-density lipoprotein receptor repeat class B (526 - 565)

Ldl_recept_b

Ldl_recept_b: Low-density lipoprotein receptor repeat class B (568 - 608)

Ldl_recept_b

Ldl_recept_b: Low-density lipoprotein receptor repeat class B (613 - 653)

Ldl_recept_b

Ldl_recept_b: Low-density lipoprotein receptor repeat class B (655 - 695)

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Protein Preferred Names Protein Names

very low-density lipoprotein receptor

VLDL receptor

Recombinant VLDLR Proteins

Cat. No. Product Name Accession Purity
HY-P76125 VLDLR Protein, Human (HEK293, His) P98155 (G28--S797) ≥95%

Related Diseases

Diseases Alias
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1

Dysequilibrium Syndrome

CAMRQ1

Des

Cerebellar Ataxia, Intellectual Disability, And Dysequilibrium Syndrome 1

Cerebellar Hypoplasia, Vldlr-Associated

Cerebellar Hypoplasia And Mental Retardation With Or Without Quadrupedal Locomotion 1

Cerebellar Ataxia, Mental Retardation And Dysequlibrium Syndrome

Uner Tan Syndrome

Vldlr Cerebellar Hypoplasia

Vldlrch

Vldlr-Associated Cerebellar Hypoplasia

Cerebellar Ataxia And Mental Retardation With Or Without Quadrupedal Locomotion 1

Cerebellar Ataxia, Congenital, And Mental Retardation, Autosomal Recessive

Camrq

Cerebellar Ataxia, Mental Retardation, Dysequilibrium Syndrome 1

Cerebellar Disorder, Nonprogressive, With Intellectual Disability

Cerebellar Hypoplasia, Vldlr Associated

Autosomal Recessive Cerebellar Ataxia With Mental Retardation

Autosomal Recessive Cerebellar Hypoplasia With Cerebral Gyral Simplification

Cerebellar Disorder, Nonprogressive, With Mental Retardation

Cerebellar Hypoplasia And Mental Retardation With Or Without Quadrupedal Locomotion

Chmrq1

Des-Vldlr

Dysequilibrium Syndrome-Vldlr

Vldlr-Ch

Camrq Syndrome

Cerebellar Ataxia-Intellectual Disability-Dysequilibrium Syndrome Syndrome

Non-Progressive Cerebellar Ataxia-Intellectual Disability Syndrome

Uts

Cerebellar Hypoplasia Vldlr-Associated

Dialysis Disequilibrium Syndrome

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

Nervous System Disease

Abnormality Of The Nervous System

Nervous System Diseases

Nervous System Disorder

Cerebellar Hypoplasia
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities

CECBA

Cerebellar Ataxia, Nonprogressive, With Mental Retardation

Canpmr

Nonprogressive Cerebellar Ataxia With Mental Retardation

Non-Progressive Cerebellar Ataxia With Intellectual Disability

Ataxia, Cerebellar, Nonprogressive, With Mental Retardation

Lissencephaly

Pachygyria

Broad Gyri Of Cerebrum

Large Gyri Of Cerebrum

Macrogyria

Osteoporosis-Pseudoglioma Syndrome

OPPG

Ops

Osteoporosis With Pseudoglioma

Osteogenesis Imperfecta, Ocular Form

Ocular Form Of Osteogenesis Imperfecta

Osteogenesis Imperfecta Ocular Form

Osteoporosis Pseudoglioma Syndrome

Pseudoglioma With Bone Fragility

Lissencephaly 2

Norman-Roberts Syndrome

Lissencephaly Syndrome, Norman-Roberts Type

LIS2

Lissencephaly With Cerebellar Hypoplasia

Lch

Lissencephaly Syndrome Norman-Roberts Type

Norman Roberts Lissencephaly Syndrome

Lissencephaly 3

Lis3

Microlissencephaly Type A

Norman-Roberts Lissencephaly Syndrome

Lissencephaly, Type 2

Cobblestone Lissencephaly

Spinocerebellar Ataxia 37

Spinocerebellar Ataxia Type 37

SCA37

Spinocerebellar Ataxia With Altered Vertical Eye Movements

Familial Hyperlipidemia

Familial Hyperlipoproteinemia

Hyperlipidaemia

Hyperlipoproteinemias

Hyperlipidemia

Hyperlipemia

Hyperlipidemias

Band Heterotopia

Subcortical Band Heterotopia

Double Cortex Syndrome

Subcortical Laminar Heterotopia

Double Cortex

Band Heterotopia Of Brain

BH

Heco

Heterotopic Cortex

Familial Band Heterotopia

Dc

Dc Syndrome

Heterotopia, Subcortical Band

Sbh

Sclh

Bhy

Lissencephaly, X-Linked, 2

X-Linked Lissencephaly With Abnormal Genitalia

Hydranencephaly With Abnormal Genitalia

Xlag

Xlisg

X-Linked Lissencephaly With Ambiguous Genitalia

LISX2

Lissencephaly, X-Linked 2

X-Linked Lissencephaly 2

X-Linked Lissencephaly-Corpus Callosum Agenesis-Genital Anomalies Syndrome

Xlag Syndrome

Lissencephaly, X-Linked, With Ambiguous Genitalia

Xlis2

X-Linked Lissencephaly - Agenesis Of The Corpus Callosum - Genital Anomalies

X-Linked Lissencephaly-Agenesis Of The Corpus Callosum-Genital Anomalies Syndrome

Xlag Syndrome

Lissencephaly X-Linked With Ambiguous Genitalia

Lissencephaly, X-Linked, Type 2

Chromosome Xq26.3 Duplication Syndrome

Donnai-Barrow Syndrome

Faciooculoacousticorenal Syndrome

Dbs/Foar Syndrome

Foar Syndrome

Diaphragmatic Hernia-Exomphalos-Hypertelorism Syndrome

Facio-Oculo-Acoustico-Renal Syndrome

Diaphragmatic Hernia, Exomphalos, Absent Corpus Callosum, Hypertelorism, Myopia, Sensorineural Deafness, And Proteinuria

Diaphragmatic Hernia-Hypertelorism-Myopia-Deafness Syndrome

Holmes-Schepens Syndrome

Syndrome Of Ocular And Facial Anomalies, Telecanthus And Deafness

DBS

Diaphragmatic Hernia Exomphalos Absent Corpus Callosum Hypertelorism Myopia Sensorineural Deafness And Proteinuria

Diaphragmatic Hernia-Exomphalos-Corpus Callosum Agenesis

Diaphragmatic Hernia-Hypertelorism-Myopia-Hearing Loss Syndrome

Syndrome Of Ocular And Facial Anomalies, Telecanthus And Hearing Loss

Donnai Barrow Syndrome

Strabismus

Strabismus, Susceptibility To

Strabismus, Susceptibility To, 1

Strabismus 1

Kuhnt-Junius Degeneration

Neovascular Age-Related Macular Degeneration

Exudative Senile Macular Degeneration Of Retina

Senile Macular Degeneration, Wet

Wet Senile Macular Retinal Degeneration

Exudative Age-Related Macular Degeneration

Exudative Macular Degeneration

Hyperlipoproteinemia, Type Iii

Hyperlipoproteinemia Type Iii

Broad-Betalipoproteinemia

Floating-Betalipoproteinemia

Familial Type 3 Hyperlipoproteinemia

Broad Beta Disease

Familial Hyperbeta- And Prebetalipoproteinemia

Familial Hypercholesterolemia With Hyperlipemia

Hyperlipemia With Familial Hypercholesterolemic Xanthomatosis

Coronary Artery Disease, Severe, Susceptibility To

Coronary Artery Disease, Severe

Hyperlipidemia Type 3

Familial Dysbetalipoproteinemia

Hyperlipoproteinemia Type 3

Coronary Artery Disease

Apolipoprotein E, Deficiency Or Defect Of

Dysbetalipoproteinemia Due To Defect In Apolipoprotein E-D

Carbohydrate Induced Hyperlipemia

Familial Hypercholesterolaemia With Hyperlipaemia

Remnant Hyperlipidemia

Remnant Removal Disease

Dysbetalipoproteinemia

Broad-Beta Disease

Familial Dyslipidemia Type 3

Hlp Type 3

Remnant Hyperlipoproteinemia

Familial Hyperlipoproteinemia Type Iii

CAD

Hyperlipoproteinemia 3

HLPP3

Deficiency Or Defect Of Apolipoprotein E

Dysbetalipoproteinemia Due To Defect In Apolipoprotein E

Coronary Arteriosclerosis

Coronary Heart Disease

Miller-Dieker Lissencephaly Syndrome

Miller-Dieker Syndrome

Mds

MDLS

Miller Dieker Syndrome

Classical Lissencephaly Syndrome

Lissencephaly Due To 17p13.3 Deletion

Monosomy 17p13.3

Telomeric Deletion 17p

Classical Lissencephaly

Alzheimer Disease, Familial, 1

Alzheimer Disease

Alzheimer'S Disease

Presenile And Senile Dementia

AD1

Alzheimer Disease, Susceptibility To

Alzheimer Disease, Late-Onset, Susceptibility To

Alzheimer Disease 1, Familial

AD

Familial Alzheimer Disease

Alzheimer Disease, Late-Onset

Alzheimers Dementia

Alzheimer Dementia

Alzheimer Sclerosis

Alzheimer Syndrome

Alzheimer-Type Dementia

Dat

Primary Senile Degenerative Dementia

Sdat

Alzheimer Disease 1

Autosomal Dominant Alzheimer Disease

Early-Onset Alzheimer Disease With Cerebral Amyloid Angiopathy

Late Onset Alzheimer Disease

Alzheimers Disease

Alzheimer Disease, Early-Onset, With Cerebral Amyloid Angiopathy

Late-Onset Alzheimers Disease

Alzheimer'S Disease Pathway Kegg

Dementia Due To Alzheimer'S Disease

Alzheimer Disease Type 1

Alzheimers

Vascular Disease

Vascular Diseases

Aneurysm

Spinal Cord Ischemia

Vascular Anomaly

Spinal Cord Vascular Diseases

Vascular Tissue Disease

Cerebral Palsy

Infantile Cerebral Palsy

Mixed Cerebral Palsy

Palsy Cerebral

Palsy, Cerebral

Cerebral Palsy, Mixed

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

Pontocerebellar Hypoplasia

Pch

Congenital Pontocerebellar Hypoplasia

Opch

Hypoplasia, Pontocerebellar

Pontoneocerebellar Hypoplasia

Nonsyndromic Pontocerebellar Hypoplasia

Schizophrenia

SCZD

Schizophrenia With Or Without An Affective Disorder

Schizophrenia 12

Schizophrenia, Susceptibility To

Schizophrenia-1

Dementia Praecox

Schizophrenia 1

Exudative Vitreoretinopathy 1

Retinopathy Of Prematurity

Retrolental Fibroplasia

EVR1

Criswick-Schepens Syndrome

Rop

Exudative Vitreoretinopathy, Familial, Autosomal Dominant

Fevr, Autosomal Dominant

Premature Retinopathy

Vitreoretinopathy, Exudative 1

Autosomal Dominant Familial Exudative Vitreoretinopathy

Fevr

Vitreoretinopathy, Exudative, Type 1

Retinopathy Of Prematurity Nos

Rlf- [Retrolental Fibroplasia]

Rop - [Retinopathy Of Prematurity]

Terry Syndrome

Cerebellar Disease

Cerebellar Diseases

Cerebellar Dysfunction

Cerebellar Abnormality

Cerebellar Disorders

Familial Hypercholesterolemia

Hyperlipoproteinemia Type Iia

Familial Hyperbetalipoproteinaemia

Familial Hypercholesteremia

Fredrickson Type Iia Hyperlipoproteinemia

Fredrickson Type Iia Lipidaemia

Hyperbetalipoproteinemia

Type Ii Hyperlipidemia

Familial Hypercholesterolæmia

Familial Hypercholesterolaemia

Fh

Hypercholesterolemia Familial

Hyperlipoproteinemia Type Ii

Hypercholesterolemia, Familial

Periventricular Nodular Heterotopia

Periventricular Heterotopia

Pvnh

Familial Nodular Heterotopia

Heterotopia, Periventricular

Periventricular Heterotopia, X-Linked

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
Bos taurus VLDLR VGNC VGNC:36803
Felis catus VLDLR VGNC VGNC:66949
Macaca mulatta VLDLR VGNC VGNC:78774
Mus musculus VLDLR MGD MGI:98935
Canis familiaris VLDLR VGNC VGNC:48269
Rattus norvegicus VLDLR RGD RGD:3963
Others VLDLR NCBI