Indicadores
FANCG Gene
This gene is involved in the maintenance of genomic integrity and nuclear signal transduction. Allelic variants of the gene are involved in Fanconi syndrome.
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Indicadores
This gene is involved in the maintenance of genomic integrity and nuclear signal transduction. Allelic variants of the gene are involved in Fanconi syndrome.
Indicadores
This gene is involved in the mediation of protein ubiquitination.
Indicadores
This gene is involved in ubiquitin-dependent proteolysis and regulation of the G1-S cell cycle checkpoint.
Indicadores
This gene plays a role in mitogenesis and differentiation.
Indicadores
This gene plays a role in mitogenesis and differentiation and mutations in the gene are associated with craniosynostotic syndromes and bone malformations.
Indicadores
This gene plays a role in bone development and maintenance and mutations in the gene are associated with craniosynostosis and several types of skeletal dysplasia.
Indicadores
This gene plays a role in mitogenesis and differentiation.
Indicadores
This gene may play a role in tumor suppression.
Indicadores
This gene plays a role in hematopoiesis and may function as a growth factor receptor.
Indicadores
This gene is involved in transcriptional regulation and may play a role in myogenic growth and differentiation.
Glossary Term
A mutation occurring within the protein-coding region of a gene which results in a shift in the reading frame of the encoded protein. Frameshift mutations often result in the premature truncation of a gene product.
Pruebas
A galactosemia test is a blood test given to newborns to check for a rare genetic metabolic disorder called galactosemia. Metabolic disorders affect metabolism, the process your body uses to make energy from the food you eat. Galactosemia can be inherited (passed down through families), but to have the condition, your baby has to receive the gene from both parents. Genes are parts of DNA in your cells that you inherit from your parents. You inherit two copies of each gene, one from each parent.