FAM46D
FAM46D: A Comprehensive Overview
Introduction
FAM46D (family with sequence similarity 46, member D) is a gene that encodes a protein involved in various cellular processes, including DNA replication and repair. Mutations in FAM46D have been linked to a range of inherited disorders.
Description
The FAM46D gene is located on chromosome 17q23.2 and consists of 15 exons. The encoded protein, FAM46D, is a member of the FANCJ-like Fe-S cluster protein family. It contains two conserved domains, an N-terminal domain involved in Fe-S cluster binding and a C-terminal domain with unknown function. FAM46D interacts with several other proteins, including FANCM, FANCJ, and BRCA1, which are involved in DNA repair pathways.
Associated Diseases
Mutations in FAM46D have been associated with the following conditions:
- Fanconi anemia (FA): FA is a rare inherited disorder characterized by bone marrow failure, developmental abnormalities, and an increased risk of cancer. Mutations in FAM46D are found in a small percentage of FA cases (approximately 1-2%).
- Microcephaly (MCPH) or microcephalic primordial dwarfism: MCPH is a genetic condition characterized by an abnormally small head and developmental delays. Mutations in FAM46D are associated with a specific type of MCPH known as MCPH7.
- Ovarian insufficiency or premature ovarian failure (POI/POF): POI/POF is a condition in which women experience premature loss of ovarian function, leading to infertility. Mutations in FAM46D can contribute to the development of POI/POF.
Did you Know ?
- Mutations in FAM46D account for approximately 1-2% of all cases of Fanconi anemia, a rare inherited disorder affecting around 1 in 160,000 individuals.
