STAC3

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

246329

237611

Ensembl

ENSG00000185482

ENSMUSG00000040287

UniProt

Q96MF2

Q8BZ71

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
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. 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.