Gene: SAMD9L

Alternate names for this Gene: ATXPC|C7orf6|DRIF2|UEF1

Gene Summary: 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.

Gene is located in Chromosome: 7

Location in Chromosome : 7q21.2

Description of this Gene: sterile alpha motif domain containing 9 like

Type of Gene: protein-coding

rs1133906 in SAMD9L gene and Lupus Erythematosus, Systemic PMID 23740937 2013 A systemic sclerosis and systemic lupus erythematosus pan-meta-GWAS reveals new shared susceptibility loci.

rs1554341158 in SAMD9L gene and Myelocerebellar Disorder PMID 28202457 2017 Gain-of-function SAMD9L mutations cause a syndrome of cytopenia, immunodeficiency, MDS, and neurological symptoms.

PMID 27259050 2016 Ataxia-Pancytopenia Syndrome Is Caused by Missense Mutations in SAMD9L.

rs1133906 in SAMD9L gene and Systemic Scleroderma PMID 23740937 2013 A systemic sclerosis and systemic lupus erythematosus pan-meta-GWAS reveals new shared susceptibility loci.