VCP Chromosome 9

Valosin containing protein

68 variants 68 Health Risk

Upload your DNA to see your personal genotypes for variants in VCP.

What This Gene Does

This gene encodes a member of the AAA ATPase family of proteins. The encoded protein plays a role in protein degradation, intracellular membrane fusion, DNA repair and replication, regulation of the cell cycle, and activation of the NF-kappa B pathway. This protein forms a homohexameric complex that interacts with a variety of cofactors and extracts ubiquitinated proteins from lipid membranes or protein complexes. Mutations in this gene cause IBMPFD (inclusion body myopathy with paget disease of bone and frontotemporal dementia), ALS (amyotrophic lateral sclerosis) and Charcot-Marie-Tooth disease in human patients. [provided by RefSeq, Aug 2017]

Gene Info

Gene Group

"AAA ATPases|VCP-Ufd1-Npl4 complex subunits"

Locus Type

gene with protein product

Location

9p13.3

Ensembl

ENSG00000165280

Associated Conditions (18)

Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1

Frontotemporal dementia and/or amyotrophic lateral sclerosis 6

Inclusion body myopathy with Paget disease of bone and frontotemporal dementia

Inborn genetic diseases

VCP-related disorder

Charcot-Marie-Tooth disease type 2Y

Intellectual disability

Neurodevelopmental disorder

Amyotrophic lateral sclerosis

Spastic paraplegia

FRONTOTEMPORAL DEMENTIA WITHOUT AMYOTROPHIC LATERAL SCLEROSIS 6

WITH NEUROFIBRILLARY TANGLES

Lewy body dementia

Childhood Onset VCP-related Neurodevelopmental Disorder

Amyotrophic lateral sclerosis type 6

Alzheimer disease

Global developmental delay

INCLUSION BODY MYOPATHY WITHOUT EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1

Key Variants

RS121909329

Conflicting classifications of pathogenicity

Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1, Frontotemporal dementia and/or amyotrophic lateral sclerosis 6, Inclusion body myopathy with Paget disease of bone and frontotemporal dementia

Health Risk

RS1260699314

Conflicting classifications of pathogenicity

Frontotemporal dementia and/or amyotrophic lateral sclerosis 6, Inclusion body myopathy with Paget disease of bone and frontotemporal dementia, Inborn genetic diseases

Health Risk

RS141275388

Conflicting classifications of pathogenicity

Frontotemporal dementia and/or amyotrophic lateral sclerosis 6, Inclusion body myopathy with Paget disease of bone and frontotemporal dementia, Inborn genetic diseases

Health Risk

RS147623367

Conflicting classifications of pathogenicity

Inclusion body myopathy with Paget disease of bone and frontotemporal dementia, Frontotemporal dementia and/or amyotrophic lateral sclerosis 6, Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1

Health Risk

RS148329626

Conflicting classifications of pathogenicity

Frontotemporal dementia and/or amyotrophic lateral sclerosis 6, Inclusion body myopathy with Paget disease of bone and frontotemporal dementia, Inborn genetic diseases

Health Risk

RS1554668168

Conflicting classifications of pathogenicity

Inborn genetic diseases, Frontotemporal dementia and/or amyotrophic lateral sclerosis 6, Inclusion body myopathy with Paget disease of bone and frontotemporal dementia

Health Risk

RS1554668979

Conflicting classifications of pathogenicity

Health Risk

RS1563976866

Conflicting classifications of pathogenicity

Frontotemporal dementia and/or amyotrophic lateral sclerosis 6, Inclusion body myopathy with Paget disease of bone and frontotemporal dementia, Inborn genetic diseases

Health Risk

RS1563980403

Conflicting classifications of pathogenicity

Health Risk

RS1563980979

Conflicting classifications of pathogenicity

Frontotemporal dementia and/or amyotrophic lateral sclerosis 6, Inclusion body myopathy with Paget disease of bone and frontotemporal dementia, Inborn genetic diseases

Health Risk

RS1563981227

Conflicting classifications of pathogenicity

Frontotemporal dementia and/or amyotrophic lateral sclerosis 6, Inclusion body myopathy with Paget disease of bone and frontotemporal dementia, Frontotemporal dementia and/or amyotrophic lateral sclerosis 6

Health Risk

RS1828723406

Conflicting classifications of pathogenicity

Frontotemporal dementia and/or amyotrophic lateral sclerosis 6, Inclusion body myopathy with Paget disease of bone and frontotemporal dementia, Charcot-Marie-Tooth disease type 2Y

Health Risk

All Variants (68)

RSID	Category	Clinical Significance	Conditions
RS387906789	Health Risk	Likely pathogenic	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6, Frontotemporal dementia and/or amyotrophic lateral sclerosis 6, Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
RS758169026	Health Risk	Likely pathogenic	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6, Inclusion body myopathy with Paget disease of bone and frontotemporal dementia, Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
RS864309501	Health Risk	Likely pathogenic	Charcot-Marie-Tooth disease type 2Y, Frontotemporal dementia and/or amyotrophic lateral sclerosis 6, Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
RS866101707	Health Risk	Likely pathogenic	Alzheimer disease, Alzheimer disease
RS121909330	Health Risk	Pathogenic	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1, Frontotemporal dementia and/or amyotrophic lateral sclerosis 6, Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
RS121909331	Health Risk	Pathogenic	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1, Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1
RS121909335	Health Risk	Pathogenic	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1, Frontotemporal dementia and/or amyotrophic lateral sclerosis 6, Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
RS1554668813	Health Risk	Pathogenic	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia, Frontotemporal dementia and/or amyotrophic lateral sclerosis 6, Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
RS1554668814	Health Risk	Pathogenic	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia, Frontotemporal dementia and/or amyotrophic lateral sclerosis 6, Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
RS1554669087	Health Risk	Pathogenic	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6, Inclusion body myopathy with Paget disease of bone and frontotemporal dementia, Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
RS2490348146	Health Risk	Pathogenic	Global developmental delay, Global developmental delay
RS387906790	Health Risk	Pathogenic	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6, Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
RS863225291	Health Risk	Pathogenic	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1, Frontotemporal dementia and/or amyotrophic lateral sclerosis 6, INCLUSION BODY MYOPATHY WITHOUT EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1
RS864309502	Health Risk	Pathogenic	Charcot-Marie-Tooth disease type 2Y, Frontotemporal dementia and/or amyotrophic lateral sclerosis 6, Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
RS900105227	Health Risk	Pathogenic	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia, Frontotemporal dementia and/or amyotrophic lateral sclerosis 6, Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
RS1064796741	Health Risk	Pathogenic/Likely pathogenic	—
RS121909334	Health Risk	Pathogenic/Likely pathogenic	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1, Frontotemporal dementia and/or amyotrophic lateral sclerosis 6, Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
RS1554668817	Health Risk	Pathogenic/Likely pathogenic	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6, Inclusion body myopathy with Paget disease of bone and frontotemporal dementia, Frontotemporal dementia and/or amyotrophic lateral sclerosis 6

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