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
RS782575778 Health Risk Conflicting classifications of pathogenicity Methylmalonic acidemia with homocystinuria, type cblX, Inborn genetic diseases
RS782636507 Health Risk Conflicting classifications of pathogenicity Methylmalonic acidemia with homocystinuria, type cblX, Methylmalonic acidemia with homocystinuria
RS782727601 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Methylmalonic acidemia with homocystinuria, type cblX
RS868914963 Health Risk Conflicting classifications of pathogenicity Methylmalonic acidemia with homocystinuria, type cblX, Inborn genetic diseases
RS886044899 Health Risk Conflicting classifications of pathogenicity Methylmalonic acidemia with homocystinuria, type cblX, Methylmalonic acidemia with homocystinuria
RS909217502 Health Risk Conflicting classifications of pathogenicity Methylmalonic acidemia with homocystinuria, type cblX, Inborn genetic diseases
RS997841591 Health Risk Conflicting classifications of pathogenicity Methylmalonic acidemia with homocystinuria, type cblX, Inborn genetic diseases
RS1064796833 Health Risk Likely pathogenic
RS1131691718 Health Risk Likely pathogenic
RS2521446197 Health Risk Likely pathogenic Methylmalonic acidemia with homocystinuria, type cblX, Methylmalonic acidemia with homocystinuria
RS2148554043 Health Risk Pathogenic
RS318240758 Health Risk Pathogenic Methylmalonic acidemia with homocystinuria, type cblX, Methylmalonic acidemia with homocystinuria
RS397515485 Health Risk Pathogenic Methylmalonic acidemia with homocystinuria, type cblX, Disorders of Intracellular Cobalamin Metabolism
RS397515487 Health Risk Pathogenic Methylmalonic acidemia with homocystinuria, type cblX, Disorders of Intracellular Cobalamin Metabolism
RS398122908 Health Risk Pathogenic Methylmalonic acidemia with homocystinuria, type cblX, Methylmalonic acidemia with homocystinuria
RS797044886 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS869312686 Health Risk Pathogenic Methylmalonic acidemia with homocystinuria, type cblX, Methylmalonic acidemia with homocystinuria
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