Gene: SAMD9
Alternate names for this Gene: C7orf5|DRIF1|MIRAGE|NFTC|OEF1|OEF2
Gene Summary: This gene encodes a sterile alpha motif domain-containing protein. The encoded protein localizes to the cytoplasm and may play a role in regulating cell proliferation and apoptosis. Mutations in this gene are the cause of normophosphatemic familial tumoral calcinosis. Alternate splicing results in multiple transcript variants that encode the same protein.
Gene is located in Chromosome: 7
Location in Chromosome : 7q21.2
Description of this Gene: sterile alpha motif domain containing 9
Type of Gene: protein-coding
rs1554336981 in
SAMD9 gene and
MIRAGE SYNDROME
PMID 27182967 2016 SAMD9 mutations cause a novel multisystem disorder, MIRAGE syndrome, and are associated with loss of chromosome 7.
rs1554336981 in
SAMD9 gene and
Multiple congenital anomalies
PMID 16960814 2006 A deleterious mutation in SAMD9 causes normophosphatemic familial tumoral calcinosis.
PMID 18094730 2008 Normophosphatemic familial tumoral calcinosis is caused by deleterious mutations in SAMD9, encoding a TNF-alpha responsive protein.
PMID 27182967 2016 SAMD9 mutations cause a novel multisystem disorder, MIRAGE syndrome, and are associated with loss of chromosome 7.
PMID 24029230 2013 Haploinsufficiency of SAMD9L, an endosome fusion facilitator, causes myeloid malignancies in mice mimicking human diseases with monosomy 7.
rs121918554 in
SAMD9 gene and
Tumoral Calcinosis, Normophosphatemic, Familial
PMID 16960814 2006 A deleterious mutation in SAMD9 causes normophosphatemic familial tumoral calcinosis.
PMID 18094730 2008 Normophosphatemic familial tumoral calcinosis is caused by deleterious mutations in SAMD9, encoding a TNF-alpha responsive protein.
PMID 28346228 2017 Somatic mutations and progressive monosomy modify SAMD9-related phenotypes in humans.