LOC388849
Description
Loc388849 is a genetic variant, or mutation, located on the X chromosome. It is a missense mutation, which means that it changes a single amino acid in the protein encoded by the gene at that locus. In this case, the mutation changes the amino acid arginine to glutamine at position 388 in the protein.
The gene at loc388849 encodes a protein called GATA2, which is a transcription factor. Transcription factors are proteins that regulate the expression of genes by binding to specific DNA sequences and either promoting or repressing transcription. GATA2 is essential for the development of the blood and immune systems.
Individuals who inherit two copies of the loc388849 mutation (one from each parent) have a condition called GATA2 deficiency. GATA2 deficiency is a rare genetic disorder that affects the development of the blood and immune systems. Symptoms of GATA2 deficiency can include:
- Anemia
- Thrombocytopenia (low platelet count)
- Neutropenia (low neutrophil count)
- Immunodeficiency
- Lymphedema (swelling of the lymph nodes)
- Pulmonary atresia (narrowing of the pulmonary artery)
- Esophageal atresia (incomplete development of the esophagus)
- Tracheoesophageal fistula (a connection between the trachea and esophagus)
Associated Diseases
GATA2 deficiency is associated with a number of other diseases, including:
- Acute myeloid leukemia (AML)
- Myelodysplastic syndrome (MDS)
- Chronic myelomonocytic leukemia (CMML)
- T-cell leukemia
- B-cell leukemia
Did you Know ?
GATA2 deficiency is a rare genetic disorder, affecting approximately 1 in 100,000 people.
