RecName: Full=Calsequestrin-1; AltName: Full=Calmitine; AltName: Full= - Protein

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The clinical spectrum of CASQ1-related myopathy. [Neurology. 2018]
The clinical spectrum of CASQ1-related myopathy.
Semplicini C, Bertolin C, Bello L, Pantic B, Guidolin F, Vianello S, Catapano F, Colombo I, Moggio M, Gavassini BF, et al. Neurology. 2018 Oct 23; 91(17):e1629-e1641. Epub 2018 Sep 26.
A Calsequestrin-1 Mutation Associated with a Skeletal Muscle Disease Alters Sarcoplasmic Ca2+ Release. [PLoS One. 2016]
A Calsequestrin-1 Mutation Associated with a Skeletal Muscle Disease Alters Sarcoplasmic Ca2+ Release.
D'Adamo MC, Sforna L, Visentin S, Grottesi A, Servettini L, Guglielmi L, Macchioni L, Saredi S, Curcio M, De Nuccio C, et al. PLoS One. 2016; 11(5):e0155516. Epub 2016 May 19.
Characterization of Two Human Skeletal Calsequestrin Mutants Implicated in Malignant Hyperthermia and Vacuolar Aggregate Myopathy. [J Biol Chem. 2015]
Characterization of Two Human Skeletal Calsequestrin Mutants Implicated in Malignant Hyperthermia and Vacuolar Aggregate Myopathy.
Lewis KM, Ronish LA, Ríos E, Kang C. J Biol Chem. 2015 Nov 27; 290(48):28665-74. Epub 2015 Sep 28.

RefSeq genomic sequence
See the genomic reference sequence for the CASQ1 gene (NG_042040.1).
RefSeq protein
See the reference protein sequence for calsequestrin-1 precursor (NP_001222.3).

PubMed
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Taxonomy
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BioSystems
BioSystems
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OMIM
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P31415 [Domain Mapping of Disease Mut...]
P31415
Domain Mapping of Disease Mutations
Transcript/Protein Information [PANTHER Classification System]
Transcript/Protein Information
PANTHER Classification System
Reactome [Reactome]
Reactome
reagents [ExactAntigen/Labome]
reagents
ExactAntigen/Labome
reagent reviews [ExactAntigen/Labome]
reagent reviews
ExactAntigen/Labome

hypothetical protein, partial [Homo sapiens]
hypothetical protein, partial [Homo sapiens]
gi|51476444|emb|CAH18212.1|

Protein
TMC5 protein [Homo sapiens]
TMC5 protein [Homo sapiens]
gi|23272503|gb|AAH38118.1|

Protein
Homo sapiens caspase 14 precursor (CASP14) mRNA, complete cds
Homo sapiens caspase 14 precursor (CASP14) mRNA, complete cds
gi|4323040|gb|AF097874.1|

Nucleotide

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Protein