Alt. symbols: C7orf6 | KIAA2005 | FLJ39885

Approved name: sterile alpha motif domain containing 9 like
Alt. names: chromosome 7 open reading frame 6, sterile alpha motif domain containing 9-like

Location: 7q21.2: 93130056 - 93148385 (-)
Gene type: protein_coding, 9 transcripts.

Scores: LoFtool: | pLI: 0.00000000 | LOEUF: 0.783

HGNC: 1349

NCBI: 219285, RefSeq: NG_053186.1

Ensembl: ENSG00000177409.12

LRG_ | Status: none

OMIM: 611170

Expression | ProteinAtlas

This gene encodes a cytoplasmic protein that is involved in regulating cell growth, proliferation and differentiation, particularly of haematopoietic cells in the bone marrow. Studies suggest that the SAMD9L protein acts as a tumour suppressor, keeping cells from uncontrolled growth and division, but it is also involved in the innate immune response to viral infection. The SAMD9L protein also appears to play an important role in the cerebellum, although less is known about the protein's function there.

Monoallelic mutations in this gene have been recently shown to cause a complex syndrome known as Ataxia-Pancytopenia Syndrome [MIM: 159550], which is characterized by cerebellar ataxia, immunodeficiency with variable hematologic cytopenias, myelodysplastic syndrome, and myeloid leukemia, sometimes associated with monosomy 7. At least 8 affected families have been reported in the literature thus far. The reported pathogenic missense mutations include p.His880Gln, p.Cys1196Ser (Chen et al. 2016), p.Ile891Thr, p.Arg986Cys (Tesi B et al. 2017), and p.Val1512Met, p.Arg986His (Pastor V. et al. 2018). These mutations seem to have a proliferation-suppressive gain-of-function effect. According to allele variability data in gnomAD, predicted loss of function (pLOF) mutations (frameshift or nonsense mutations) in SAMD9L seem to be tolerated in the general population. [Load More]