1. Gene
  2. VPS13C - vacuolar protein sorting 13 homolog C Gene

VPS13C - vacuolar protein sorting 13 homolog C Gene

Homo sapiens

Also known as BLTP5C; PARK23

Gene ID: 54832 | Gene type: protein coding

About VPS13C

Cytogenetic location: 15q22.2 Genomic coordinates (GRCh38): 15:61,852,389-62,060,447 (from NCBI)

This gene has 12 transcripts (splice variants), 210 orthologues, 2 paralogues and is associated with 2 phenotypes. Ubiquitous expression in lymph node (RPKM 9.0), spleen (RPKM 8.6) and 25 other tissues.

Summary

This gene encodes a member of the vacuolar protein sorting-associated 13 gene family. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2010]

VPS13C Products(4)

mRNA Protein Name
NM_001018088.3 NP_001018098.1 intermembrane lipid transfer protein VPS13C isoform 2B
NM_017684.5 NP_060154.3 intermembrane lipid transfer protein VPS13C isoform 1A
NM_018080.4 NP_060550.2 intermembrane lipid transfer protein VPS13C isoform 1B
NM_020821.3 NP_065872.1 intermembrane lipid transfer protein VPS13C isoform 2A

VPS13C Protein Structure

Chorein_N

Chorein_N: N-terminal region of Chorein or VPS13 (3 - 118)

SHR-BD

SHR-BD: SHR-binding domain of vacuolar-sorting associated protein 13 (2764 - 3017)

ATG_C

ATG_C: Autophagy-related protein C terminal domain (3503 - 3587)

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  • 3753 a.a.
Protein Preferred Names Protein Names

intermembrane lipid transfer protein VPS13C

vacuolar protein sorting-associated protein 13C

bridge-like lipid transfer protein family member 5C

Related Diseases

Diseases Alias
Parkinson Disease 23, Autosomal Recessive Early-Onset

Autosomal Recessive Early-Onset Parkinson Disease 23

PARK23

Parkinson Disease 23, Autosomal Recessive, Early Onset

Parkinson'S Disease 23

Autosomal Recessive Early-Onset Parkinson'S Disease 23

Parkinson Disease, Type 23, Autosomal Recessive, Early Onset

Parkinson Disease, Late-Onset

Parkinson Disease

Parkinson'S Disease

PD

PARK

Parkinson Disease, Susceptibility To

Late Onset Parkinson'S Disease

Late Onset Parkinson Disease

Paralysis Agitans

Primary Parkinsonism

Idiopathic Parkinson Disease

Parkinson'S

Parkinson Disease, Late-Onset, Susceptibility To

Parkinson Disease, Age Of Onset, Modifier

Lewy Body Parkinson Disease

Idiopathic Parkinson'S Disease

Pd - [Parkinson Disease]

Parkinson Disease Nos

Parkinson, Nos

Primary Parkinson Disease

Parkinson Disease 2, Autosomal Recessive Juvenile

Young-Onset Parkinson Disease

PARK2

Pdj

Autosomal Recessive Juvenile Parkinson Disease 2

Epdf

Parkinson Disease, Juvenile, Type 2

Parkinson'S Disease 2

Autosomal Recessive Juvenile Parkinson Disease

Early-Onset Parkinson Disease

Parkinson Disease 2

Parkinson Disease, Juvenile, Autosomal Recessive

Parkinsonism, Early-Onset, With Diurnal Fluctuation

Autosomal Recessive Juvenile Parkinson'S Disease 2

Jp

Juvenile Parkinsonism

Parkinson Disease Autosomal Recessive, Early Onset

Parkinsonism, Early Onset, With Diurnal Fluctuation

Yopd

Autosomal Recessive Early-Onset Parkinson Disease Type 2

Chromosome 6-Linked Autosomal Recessive Parkinsonism

Early-Onset Parkinsonism With Diurnal Fluctuation

Parkinsonism Young Adult Onset

Parkinson Disease, Type 2

Parkinsonism, Juvenile

Hypothyroidism, Congenital, Nongoitrous, 2

Thyroid Dysgenesis

CHNG2

Thyroid Hypoplasia

Thyroid Hemiagenesis

Thyroid Agenesis

Athyreotic Hypothyroidism

Rtsh

Thyrotropin Resistance

Hypothyroidism, Congenital, Due To Thyroid Dysgenesis Or Hypoplasia

Congenital Nongoitrous Hypothyroidism 2

Thyroid, Ectopic

Hypothyroidism, Congenital, Due To Thyroid Dysgenesis

Hypothyroidism, Athyreotic

Thyrotropin

Resistance To Thyrotropin

Congenital Hypothyroidism Due To Thyroid Dysgenesis Or Hypoplasia

Hypothyroidism, Congenital, Non-Goitrous, 2

Congenital Hypothyroidism Due To Thyroid Dysgenesis

Thyroid-Stimulating Hormone Resistance

Thyroid Ectopic

Ectopic Thyroid

Hypothyroidism, Congenital, Nongoitrous, 3

Thyroid Hormone Resistance Syndrome

Hypothyroidism, Congenital, Nongoitrous, 1

Choreoacanthocytosis

Chorea-Acanthocytosis

CHAC

Acanthocytosis With Neurologic Disorder

Levine-Critchley Syndrome

Choreaacanthocytosis

Chorea Acanthocytosis

Neuroacanthocytosis

Levine-Critchley Syndrome, Formerly

Neuroacanthocytosis, Formerly

Choreo-Acanthocytosis

Acanthocytosis Chorea

Chorea Acanthocytosis Syndrome

Neuroacanthocytosis

Neuroacanthocytosis Syndrome

Dystonia 26, Myoclonic

Myoclonic Dystonia 26

DYT26

Parkinson Disease 20, Early-Onset

Early-Onset Parkinson Disease 20

PARK20

Parkinson'S Disease 20

Early-Onset Parkinson'S Disease 20

Parkinson Disease, Type 20, Early-Onset

Cohen Syndrome

Pepper Syndrome

COH1

Hypotonia, Obesity, And Prominent Incisors

Coh

Chs1, Formerly

Norio Syndrome

Obesity-Hypotonia Syndrome

Prominent Incisors-Obesity-Hypotonia Syndrome

Chs1

Hypotonia-Obesity-Prominent Incisors

Stage 4s Neuroblastoma

Parkinson Disease 21

PARK21

Parkinson'S Disease 21

Parkinson Disease, Type 21

Mcleod Syndrome

Mcleod Neuroacanthocytosis Syndrome

MLS

X-Linked Mcleod Syndrome

Mcleod Phenotype

Neuroacanthocytosis, Mcleod Type

Mcleod Syndrome With Or Without Chronic Granulomatous Disease

MCLDS

Mcleod Type Neuroacanthocytosis

Mcleod Syndrome With Chronic Granulomatous Disease

Neuroacanthocytosis Mcleod Type

Blood Group Deletion Syndrome

Early-Onset Parkinson'S Disease

Early-Onset Parkinson Disease

Spinocerebellar Ataxia, Autosomal Recessive 4

SCAR4

Scasi

Spinocerebellar Ataxia With Saccadic Intrusions

Autosomal Recessive Cerebellar Ataxia-Saccadic Intrusion Syndrome

Spinocerebellar Ataxia 24

Autosomal Recessive Spinocerebellar Ataxia 4

Sca24

Spinocerebellar Ataxia 24, Formerly

Sca24, Formerly

Spinocerebellar Ataxia Autosomal Recessive 4

Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome

Ceroid Lipofuscinosis, Neuronal, 7

CLN7

Neuronal Ceroid Lipofuscinosis 7

Cln7 Disease

Cln7 Disease, Late Infantile

Mfsd8-Related Neuronal Ceroid Lipofuscinosis

Turkish Variant Late Infantile Ncl

Lipofuscinosis, Ceroid, Neuronal, Type 7

Combined Oxidative Phosphorylation Deficiency 32

COXPD32

Dystonia 11, Myoclonic

Myoclonic Dystonia

Myoclonus-Dystonia Syndrome

DYT11

Myoclonic Dystonia 11

Alcohol-Responsive Dystonia

Myoclonus, Hereditary Essential

Dystonia-11, Myoclonic

Myoclonus-Dystonia

Dystonia 11

Hereditary Essential Myoclonus

Dystonia, Alcohol-Responsive

Dyt-Sgce

Dystonia, Alcohol Responsive

Dystonia-11

Dystonia, Myoclonic

Dystonia, Myoclonic, Type 11

Choreatic Disease

Chorea

Hereditary Chorea

Movement Disease

Movement Disorders

Movement Disorder

Spastic Ataxia

Spax

Ataxia, Spastic

Dementia, Lewy Body

Lewy Body Dementia

Lewy Body Disease

Diffuse Lewy Body Disease

Dementia With Lewy Bodies

DLB

Autosomal Dominant Diffuse Lewy Body Disease

Cortical Lewy Body Disease

Dementia, Lewy Body, Susceptibility To

Lewy Body Dementia, Susceptibility To

Senile Dementia Of The Lewy Body Type

Dementia Of The Lewy Body Type

Lbd

Diffuse Lewy Body Disease With Gaze Palsy

Dysphasic Dementia Hereditary

Lewy Body Type Senile Dementia

Lewy Body Variant Of Alzheimer Disease

Lewy Bodies

Lewy Body

Dlbd - [Diffuse Lewy Body Disease]

Clbd - [Cortical Lewy Body Disease]

Hereditary Spastic Paraplegia

Familial Spastic Paraplegia

Hereditary Spastic Paraparesis

Strumpell-Lorrain Disease

Familial Spastic Paraparesis

Hsp

Spg

Strümpell-Lorrain Disease

Spastic Paraplegia, Hereditary

French Settlement Disease

Strumpell-Lorrain Syndrome

Fsp

Spastic Paraplegia, Familial

Spastic Paraplegia Hereditary

Spastic Paraplegia 3, Autosomal Dominant

Spastic Paraparesis

Hereditary Spastic Paralysis

Familial Spastic Paralysis

Hereditary Spastic Ataxia

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
Macaca mulatta VPS13C VGNC VGNC:79399
Bos taurus VPS13C VGNC VGNC:36810
Rattus norvegicus VPS13C RGD RGD:1560364
Felis catus VPS13C VGNC VGNC:66956
Canis familiaris VPS13C VGNC VGNC:48276
Mus musculus VPS13C MGD MGI:2444207