Gene: STAC3

Alternate names for this Gene: MYPBB|NAM

Gene Summary: The protein encoded by this gene is a component of the excitation-contraction coupling machinery of muscles. This protein is a member of the Stac gene family and contains an N-terminal cysteine-rich domain and two SH3 domains. Mutations in this gene are a cause of Native American myopathy.

Gene is located in Chromosome: 12

Location in Chromosome : 12q13.3

Description of this Gene: SH3 and cysteine rich domain 3

Type of Gene: protein-coding

rs11172134 in STAC3 gene and Arthritis, Gouty PMID 23263486 2013 Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.

PMID 20884846 2010 Multiple genetic loci influence serum urate levels and their relationship with gout and cardiovascular disease risk factors.

rs11172134 in STAC3 gene and Gout PMID 23263486 2013 Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.

PMID 20884846 2010 Multiple genetic loci influence serum urate levels and their relationship with gout and cardiovascular disease risk factors.

rs140291094 in STAC3 gene and Native American myopathy PMID 23736855 2013 Stac3 is a component of the excitation-contraction coupling machinery and mutated in Native American myopathy.

PMID 29078335 2017 Structural insights into binding of STAC proteins to voltage-gated calcium channels.

PMID 28777491 2017 Horstick et al.(2013) previously reported a homozygous p.Trp284Ser variant in STAC3 as the cause of Native American myopathy (NAM) in 5 Lumbee Native American families with congenital hypotonia and weakness, cleft palate, short stature, ptosis, kyphoscoliosis, talipes deformities, and susceptibility to malignant hyperthermia (MH).

PMID 28411587 2017 Novel STAC3 Mutations in the First Non-Amerindian Patient with Native American Myopathy.

PMID 28777491 2017 Identification of STAC3 variants in non-Native American families with overlapping features of Carey-Fineman-Ziter syndrome and Moebius syndrome.

rs11172134 in STAC3 gene and Uric acid measurement (procedure) PMID 25811787 2015 Modulation of genetic associations with serum urate levels by body-mass-index in humans.