HCFC1 gene
The HCFC1 gene provides instructions for making the HCF-1 protein, a critical regulator of gene activity involved in vitamin B12 processing and cell cycle progression.
Normal Function
The HCFC1 gene provides instructions for making a protein called HCF-1, which helps regulate the activity of other genes. HCF-1 interacts with proteins called transcription factors, which bind to specific regions of DNA to control gene activity.
A primary function of HCF-1 is controlling the MMACHC gene, which is involved in processing vitamin B12 (cobalamin). This gene helps convert vitamin B12 into two cofactors:
- Adenosylcobalamin (AdoCbl): Required for the enzyme methylmalonyl CoA mutase to break down certain amino acids, fatty acids, and cholesterol.
- Methylcobalamin (MeCbl): Required for the enzyme methionine synthase to convert homocysteine to methionine, an amino acid used to make proteins.
HCF-1 also regulates genes important for the cell cycle (the process by which cells replicate) and plays a role in the distribution of cells in developing tissues, including the brain.
Health Conditions Related to Genetic Changes
Methylmalonic acidemia with homocystinuria
Variants in the HCFC1 gene have been identified in people with methylmalonic acidemia with homocystinuria, cblX type. These variants disrupt the interaction between HCF-1 and transcription factors, impairing MMACHC gene activity. This leads to:
- A failure to process and transport vitamin B12.
- A deficiency in both AdoCbl and MeCbl cofactors.
- A buildup of toxic compounds, including homocysteine.
- Decreased production of methionine.
This condition causes developmental delay, eye defects, neurological problems, blood abnormalities, and craniofacial abnormalities.
Other disorders
Variants in the HCFC1 gene have also been found in individuals with X-linked intellectual disability. In these cases, the HCF-1 protein has reduced function. This partial reduction disrupts normal brain development but does not severely impact vitamin B12 processing.
Other Names for This Gene
- CFF
- HCF
- HCF-1
- HCF1
- HFC1
- host cell factor 1
- MGC70925
- MRX3
- PPP1R89
- protein phosphatase 1, regulatory subunit 89
- VCAF
- VP16-accessory protein