HCFC1 Chromosome X

Host cell factor C1
67 variants 67 Health Risk

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What This Gene Does
This gene is a member of the host cell factor family and encodes a protein with five Kelch repeats, a fibronectin-like motif, and six HCF repeats, each of which contains a highly specific cleavage signal. This nuclear coactivator is proteolytically cleaved at one of the six possible sites, resulting in the creation of an N-terminal chain and the corresponding C-terminal chain. The final form of this protein consists of noncovalently bound N- and C-terminal chains. The protein is involved in control of the cell cycle and transcriptional regulation during herpes simplex virus infection. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Protein phosphatase 1 regulatory subunits|ATAC complex|NSL histone acetyltransferase complex"
Locus Type
gene with protein product
Location
Xq28
Ensembl
ENSG00000172534
Associated Conditions (7)
Methylmalonic acidemia with homocystinuria
type cblX
Inborn genetic diseases
HCFC1-related disorder
Intellectual disability
Cobalamin C disease
Disorders of Intracellular Cobalamin Metabolism
Key Variants
RS111385795
Conflicting classifications of pathogenicity
Methylmalonic acidemia with homocystinuria, type cblX, Methylmalonic acidemia with homocystinuria
Health Risk
RS1252960661
Conflicting classifications of pathogenicity
Inborn genetic diseases, Methylmalonic acidemia with homocystinuria, type cblX
Health Risk
RS1273500868
Conflicting classifications of pathogenicity
Methylmalonic acidemia with homocystinuria, type cblX, Inborn genetic diseases
Health Risk
RS1342469676
Conflicting classifications of pathogenicity
Methylmalonic acidemia with homocystinuria, type cblX, Methylmalonic acidemia with homocystinuria
Health Risk
RS1422949741
Conflicting classifications of pathogenicity
Methylmalonic acidemia with homocystinuria, type cblX, Methylmalonic acidemia with homocystinuria
Health Risk
RS1439756712
Conflicting classifications of pathogenicity
Methylmalonic acidemia with homocystinuria, type cblX, Inborn genetic diseases
Health Risk
RS1557115716
Conflicting classifications of pathogenicity
Methylmalonic acidemia with homocystinuria, type cblX, Methylmalonic acidemia with homocystinuria
Health Risk
RS1569546724
Conflicting classifications of pathogenicity
Methylmalonic acidemia with homocystinuria, type cblX, Methylmalonic acidemia with homocystinuria
Health Risk
RS199953428
Conflicting classifications of pathogenicity
Methylmalonic acidemia with homocystinuria, type cblX, Methylmalonic acidemia with homocystinuria
Health Risk
RS200367055
Conflicting classifications of pathogenicity
Methylmalonic acidemia with homocystinuria, type cblX, Methylmalonic acidemia with homocystinuria
Health Risk
RS201404751
Conflicting classifications of pathogenicity
Methylmalonic acidemia with homocystinuria, type cblX, HCFC1-related disorder
Health Risk
RS2065298662
Conflicting classifications of pathogenicity
Methylmalonic acidemia with homocystinuria, type cblX, Methylmalonic acidemia with homocystinuria
Health Risk
All Variants (67)
RSID Category Clinical Significance Conditions
RS111385795 Health Risk Conflicting classifications of pathogenicity Methylmalonic acidemia with homocystinuria, type cblX, Methylmalonic acidemia with homocystinuria
RS1252960661 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Methylmalonic acidemia with homocystinuria, type cblX
RS1273500868 Health Risk Conflicting classifications of pathogenicity Methylmalonic acidemia with homocystinuria, type cblX, Inborn genetic diseases
RS1342469676 Health Risk Conflicting classifications of pathogenicity Methylmalonic acidemia with homocystinuria, type cblX, Methylmalonic acidemia with homocystinuria
RS1422949741 Health Risk Conflicting classifications of pathogenicity Methylmalonic acidemia with homocystinuria, type cblX, Methylmalonic acidemia with homocystinuria
RS1439756712 Health Risk Conflicting classifications of pathogenicity Methylmalonic acidemia with homocystinuria, type cblX, Inborn genetic diseases
RS1557115716 Health Risk Conflicting classifications of pathogenicity Methylmalonic acidemia with homocystinuria, type cblX, Methylmalonic acidemia with homocystinuria
RS1569546724 Health Risk Conflicting classifications of pathogenicity Methylmalonic acidemia with homocystinuria, type cblX, Methylmalonic acidemia with homocystinuria
RS199953428 Health Risk Conflicting classifications of pathogenicity Methylmalonic acidemia with homocystinuria, type cblX, Methylmalonic acidemia with homocystinuria
RS200367055 Health Risk Conflicting classifications of pathogenicity Methylmalonic acidemia with homocystinuria, type cblX, Methylmalonic acidemia with homocystinuria
RS201404751 Health Risk Conflicting classifications of pathogenicity Methylmalonic acidemia with homocystinuria, type cblX, HCFC1-related disorder
RS2065298662 Health Risk Conflicting classifications of pathogenicity Methylmalonic acidemia with homocystinuria, type cblX, Methylmalonic acidemia with homocystinuria
RS2521554733 Health Risk Conflicting classifications of pathogenicity HCFC1-related disorder, Methylmalonic acidemia with homocystinuria, type cblX
RS367698803 Health Risk Conflicting classifications of pathogenicity Methylmalonic acidemia with homocystinuria, type cblX, Methylmalonic acidemia with homocystinuria
RS371411952 Health Risk Conflicting classifications of pathogenicity Methylmalonic acidemia with homocystinuria, type cblX, Methylmalonic acidemia with homocystinuria
RS371874117 Health Risk Conflicting classifications of pathogenicity Methylmalonic acidemia with homocystinuria, type cblX, Methylmalonic acidemia with homocystinuria
RS372299853 Health Risk Conflicting classifications of pathogenicity Methylmalonic acidemia with homocystinuria, type cblX, Inborn genetic diseases
RS372301724 Health Risk Conflicting classifications of pathogenicity Methylmalonic acidemia with homocystinuria, type cblX, Methylmalonic acidemia with homocystinuria
RS373226992 Health Risk Conflicting classifications of pathogenicity HCFC1-related disorder, Methylmalonic acidemia with homocystinuria, type cblX
RS373327413 Health Risk Conflicting classifications of pathogenicity Methylmalonic acidemia with homocystinuria, type cblX, Inborn genetic diseases
RS373753660 Health Risk Conflicting classifications of pathogenicity Methylmalonic acidemia with homocystinuria, type cblX, Methylmalonic acidemia with homocystinuria
RS374223163 Health Risk Conflicting classifications of pathogenicity Methylmalonic acidemia with homocystinuria, type cblX, Methylmalonic acidemia with homocystinuria
RS374515131 Health Risk Conflicting classifications of pathogenicity Methylmalonic acidemia with homocystinuria, type cblX, Methylmalonic acidemia with homocystinuria
RS374683078 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Methylmalonic acidemia with homocystinuria, type cblX
RS376049260 Health Risk Conflicting classifications of pathogenicity Methylmalonic acidemia with homocystinuria, type cblX, HCFC1-related disorder
RS397515486 Health Risk Conflicting classifications of pathogenicity Methylmalonic acidemia with homocystinuria, type cblX, Intellectual disability
RS398124206 Health Risk Conflicting classifications of pathogenicity Methylmalonic acidemia with homocystinuria, type cblX, Methylmalonic acidemia with homocystinuria
RS781783048 Health Risk Conflicting classifications of pathogenicity Methylmalonic acidemia with homocystinuria, type cblX, Methylmalonic acidemia with homocystinuria
RS781788935 Health Risk Conflicting classifications of pathogenicity Methylmalonic acidemia with homocystinuria, type cblX, Methylmalonic acidemia with homocystinuria
RS781904041 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Methylmalonic acidemia with homocystinuria, type cblX
RS781948229 Health Risk Conflicting classifications of pathogenicity Methylmalonic acidemia with homocystinuria, type cblX, Methylmalonic acidemia with homocystinuria
RS781949446 Health Risk Conflicting classifications of pathogenicity Methylmalonic acidemia with homocystinuria, type cblX, Inborn genetic diseases
RS781955447 Health Risk Conflicting classifications of pathogenicity Methylmalonic acidemia with homocystinuria, type cblX, Methylmalonic acidemia with homocystinuria
RS782010359 Health Risk Conflicting classifications of pathogenicity Methylmalonic acidemia with homocystinuria, type cblX, Inborn genetic diseases
RS782047045 Health Risk Conflicting classifications of pathogenicity Methylmalonic acidemia with homocystinuria, type cblX, Methylmalonic acidemia with homocystinuria
RS782075466 Health Risk Conflicting classifications of pathogenicity Methylmalonic acidemia with homocystinuria, type cblX, Methylmalonic acidemia with homocystinuria
RS782172902 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS782239008 Health Risk Conflicting classifications of pathogenicity Methylmalonic acidemia with homocystinuria, type cblX, Methylmalonic acidemia with homocystinuria
RS782252923 Health Risk Conflicting classifications of pathogenicity Methylmalonic acidemia with homocystinuria, type cblX, Inborn genetic diseases
RS782309363 Health Risk Conflicting classifications of pathogenicity Methylmalonic acidemia with homocystinuria, type cblX, Methylmalonic acidemia with homocystinuria
RS782310209 Health Risk Conflicting classifications of pathogenicity Methylmalonic acidemia with homocystinuria, type cblX, Inborn genetic diseases
RS782325371 Health Risk Conflicting classifications of pathogenicity Methylmalonic acidemia with homocystinuria, type cblX, Inborn genetic diseases
RS782354655 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Methylmalonic acidemia with homocystinuria, type cblX
RS782385961 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Methylmalonic acidemia with homocystinuria, type cblX
RS782407440 Health Risk Conflicting classifications of pathogenicity Methylmalonic acidemia with homocystinuria, type cblX, Methylmalonic acidemia with homocystinuria
RS782409511 Health Risk Conflicting classifications of pathogenicity Methylmalonic acidemia with homocystinuria, type cblX, Methylmalonic acidemia with homocystinuria
RS782467999 Health Risk Conflicting classifications of pathogenicity Methylmalonic acidemia with homocystinuria, type cblX, Methylmalonic acidemia with homocystinuria
RS782473277 Health Risk Conflicting classifications of pathogenicity Methylmalonic acidemia with homocystinuria, type cblX, Inborn genetic diseases
RS782484757 Health Risk Conflicting classifications of pathogenicity Methylmalonic acidemia with homocystinuria, type cblX, Methylmalonic acidemia with homocystinuria
RS782501125 Health Risk Conflicting classifications of pathogenicity Methylmalonic acidemia with homocystinuria, type cblX, Methylmalonic acidemia with homocystinuria
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