RecName: Full=Dystonin; AltName: Full=230 kDa bullous pemphigoid antig - Protein

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DST variants are responsible for neurogenic arthrogryposis multiplex congenita enlarging the spectrum of type VI hereditary sensory autonomic neuropathy. [Clin Genet. 2023]
DST variants are responsible for neurogenic arthrogryposis multiplex congenita enlarging the spectrum of type VI hereditary sensory autonomic neuropathy.
Capri Y, Bourmance L, Dupont C, Saint-Frison MH, Guimiot F, Grotto S, Chitrit Y, Laquerrière A, Melki J. Clin Genet. 2023 Nov; 104(5):587-592. Epub 2023 Jul 11.
Pathogenic DST sequence variants result in either epidermolysis bullosa simplex (EBS) or hereditary sensory and autonomic neuropathy type 6 (HSAN-VI). [Exp Dermatol. 2022]
Pathogenic DST sequence variants result in either epidermolysis bullosa simplex (EBS) or hereditary sensory and autonomic neuropathy type 6 (HSAN-VI).
Khalesi R, Harvey N, Garshasbi M, Kalamati E, Youssefian L, Vahidnezhad H, Uitto J. Exp Dermatol. 2022 Jun; 31(6):949-955. Epub 2022 Mar 19.
Localized autosomal recessive epidermolysis bullosa simplex arising from a novel homozygous frameshift mutation in DST (BPAG1). [Clin Exp Dermatol. 2022]
Localized autosomal recessive epidermolysis bullosa simplex arising from a novel homozygous frameshift mutation in DST (BPAG1).
Wen D, Balacco DL, Bardhan A, Harper N, Walsh D, Ryan G, Liu L, Guy A, McGrath JA, Ogboli M, et al. Clin Exp Dermatol. 2022 Feb; 47(2):497-502. Epub 2021 Nov 21.

RefSeq genomic sequence
See the genomic reference sequence for the DST gene (NG_029322.2).
RefSeq protein isoforms
See 11 reference sequence protein isoforms for the DST gene.

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Q03001 [Domain Mapping of Disease Mut...]
Q03001
Domain Mapping of Disease Mutations
Transcript/Protein Information [PANTHER Classification System]
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PANTHER Classification System
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reagents [ExactAntigen/Labome]
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ExactAntigen/Labome

RecName: Full=Dystonin; AltName: Full=230 kDa bullous pemphigoid antigen; AltNam...
RecName: Full=Dystonin; AltName: Full=230 kDa bullous pemphigoid antigen; AltName: Full=230/240 kDa bullous pemphigoid antigen; AltName: Full=Bullous pemphigoid antigen 1; Short=BPA; Short=Bullous pemphigoid antigen; AltName: Full=Dystonia musculorum protein; AltName: Full=Hemidesmosomal plaque protein
gi|294862529|sp|Q03001.4|DYST_HUMAN

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