Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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SAM Domain-containing Protein 9-like

The SAMD9L gene encodes a cytoplasmic protein that acts as an tumor supressor and is involved in innate immunity. Mutations cause autosomal recessive Ataxia-pancytopenia syndrome and are also associated with various foms of leukemia, hepatocellular carcinoma and, normophosphatemic familial tumoral calcinosis.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA
Research Method Multiplex Ligation-Dependent Probe Amplification
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Ataxia-pancytopenia syndrome
SAMD9L

References:

1.

de Jesus AA et al. (2020) Distinct interferon signatures and cytokine patterns define additional systemic autoinflammatory diseases.

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2.

Li CF et al. (2007) Human sterile alpha motif domain 9, a novel gene identified as down-regulated in aggressive fibromatosis, is absent in the mouse.

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3.

Asou H et al. (2009) Identification of a common microdeletion cluster in 7q21.3 subband among patients with myeloid leukemia and myelodysplastic syndrome.

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4.

Li FP et al. (1978) A family with acute leukemia, hypoplastic anemia and cerebellar ataxia: association with bone marrow C-monosomy.

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5.

Jiang Q et al. (2011) The Samd9L gene: transcriptional regulation and tissue-specific expression in mouse development.

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6.

Chen DH et al. (2016) Ataxia-Pancytopenia Syndrome Is Caused by Missense Mutations in SAMD9L.

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Update: Aug. 14, 2020
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