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STAC3

From Wikipedia, the free encyclopedia
STAC3
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesSTAC3, NAM, SH3 and cysteine rich domain 3, MYPBB
External IDsOMIM: 615521; MGI: 3606571; HomoloGene: 17039; GeneCards: STAC3; OMA:STAC3 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001286256
NM_001286257
NM_145064

NM_177707
NM_001359751

RefSeq (protein)

NP_001273185
NP_001273186
NP_659501
NP_659501.1

NP_808375
NP_001346680

Location (UCSC)Chr 12: 57.24 – 57.25 MbChr 10: 127.34 – 127.34 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

SH3 and cysteine-rich domain-containing protein 3 is a protein that in humans is encoded by the STAC3 gene.

STAC3 has been shown to be associated with the a special form of myopathy known as Native American myopathy (NAM), a neuromuscular disorder characterized by weakness, arthrogryposis, kyphoscoliosis, short stature, cleft palate, ptosis and susceptibility to malignant hyperthermia during anesthesia.[5] It was first identified through a genetic screen in zebrafish and was shown to be a component of the excitation contraction coupling machinery, followed by it being mapped to the region of the human genome which had been shown to be associated with the defects observed in NAM.[6]

References

[edit]
  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000185482Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000040287Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ "STAC3 Disorder". Genetic and Rare Diseases Information Center (GARD) – an NCATS Program – via National Institutes of Health.
  6. ^ Horstick EJ, Linsley JW, Dowling JJ, Hauser MA, McDonald KK, Ashley-Koch A, et al. (2013). "Stac3 is a component of the excitation-contraction coupling machinery and mutated in Native American myopathy". Nat Commun. 4: 1952. Bibcode:2013NatCo...4.1952H. doi:10.1038/ncomms2952. PMC 4056023. PMID 23736855.