SAMD9L gene

sterile alpha motif domain containing 9 like

The information on this page was automatically extracted from online scientific databases.

From NCBI 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]

From UniProt:

May be involved in endosome fusion. Mediates down-regulation of growth factor signaling via internalization of growth factor receptors.

From NCBI Gene:

  • Myelocerebellar disorder

From UniProt:

Ataxia-pancytopenia syndrome (ATXPC): An autosomal dominant disorder characterized by cerebellar ataxia, variable hematologic cytopenias, and predisposition to bone marrow failure and myeloid leukemia. [MIM:159550]

Cytogenetic Location: 7q21.2, which is the long (q) arm of chromosome 7 at position 21.2

Molecular Location: base pairs 93,130,054 to 93,148,401 on chromosome 7 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 7q21.2, which is the long (q) arm of chromosome 7 at position 21.2
  • ATXPC
  • C7orf6
  • DRIF2
  • UEF1