SAMD9L : sterile alpha motif domain containing 9 like
Description
The SAMD9L (sterile alpha motif domain containing 9 like) is a protein-coding gene located on chromosome 7.
The SAMD9L gene provides instructions for making a protein that functions in various cells throughout the body. This protein plays a key role in regulating cell growth, division, and maturation, particularly affecting bone marrow cells that produce blood cells. Research indicates that SAMD9L acts as a tumor suppressor, preventing uncontrolled cell growth and division. The SAMD9L protein also appears to have significant functions in the brain, especially in the cerebellum, although its specific role in this region is not fully understood.
SAMD9L is also known as ATXPC, C7DELq, C7orf6, DEL7q, DRIF2, M7MLS1, MLSM7, SCA49, UEF1.
Associated Diseases
- Ataxia-pancytopenia syndrome
- Myelodysplasia and leukemia syndrome with monosomy 7
- Ataxia-Pancytopenia syndrome
- Spinocerebellar ataxia 49