Aliases for SAMD9L Gene
External Ids for SAMD9L Gene
Previous HGNC Symbols for SAMD9L Gene
Previous GeneCards Identifiers for SAMD9L Gene
This gene encodes a cytoplasmic protein that acts as a tumor suppressor but also plays a key role in cell proliferation and the innate immune response to viral infection. The encoded protein contains an N-terminal sterile alpha motif domain. Naturally occurring mutations in this gene are associated with myeloid disorders such as juvenile myelomonocytic leukemia, acute myeloid leukemia, and myelodysplastic syndrome. Naturally occurring mutations are also associated with hepatitis-B related hepatocellular carcinoma, normophosphatemic familial tumoral calcinosis, and ataxia-pancytopenia syndrome. [provided by RefSeq, Apr 2017]
GeneCards Summary for SAMD9L Gene
SAMD9L (Sterile Alpha Motif Domain Containing 9 Like) is a Protein Coding gene. Diseases associated with SAMD9L include Ataxia-Pancytopenia Syndrome and Pancytopenia. An important paralog of this gene is SAMD9.
UniProtKB/Swiss-Prot for SAMD9L Gene
May be involved in endosome fusion. Mediates down-regulation of growth factor signaling via internalization of growth factor receptors.