SNTB1

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SNTB1
Identifiers
Aliases SNTB1, 59-DAP, A1B, BSYN2, DAPA1B, SNT2, SNT2B1, TIP-43, syntrophin beta 1
External IDs MGI: 101781 HomoloGene: 9618 GeneCards: SNTB1
Genetically Related Diseases
myopia[1]
RNA expression pattern
PBB GE SNTB1 214708 at fs.png

PBB GE SNTB1 208608 s at fs.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_021021

NM_016667

RefSeq (protein)

NP_066301

NP_057876.1
NP_057876

Location (UCSC) Chr 8: 120.54 – 120.81 Mb Chr 15: 55.64 – 55.91 Mb
PubMed search [2] [3]
Wikidata
View/Edit Human View/Edit Mouse

Beta-1-syntrophin is a protein that in humans is encoded by the SNTB1 gene.[4][5][6]

Function[edit]

Dystrophin is a large, rod-like cytoskeletal protein found at the inner surface of muscle fibers. Dystrophin is missing in Duchenne Muscular Dystrophy patients and is present in reduced amounts in Becker Muscular Dystrophy patients. The protein encoded by this gene is a peripheral membrane protein found associated with dystrophin and dystrophin-related proteins. This gene is a member of the syntrophin gene family, which contains at least two other structurally related genes.[6]

Interactions[edit]

SNTB1 has been shown to interact with Dystrophin.[7]

References[edit]

  1. ^ "Diseases that are genetically associated with SNTB1 view/edit references on wikidata". 
  2. ^ "Human PubMed Reference:". 
  3. ^ "Mouse PubMed Reference:". 
  4. ^ Ahn AH, Yoshida M, Anderson MS, Feener CA, Selig S, Hagiwara Y, Ozawa E, Kunkel LM (Jun 1994). "Cloning of human basic A1, a distinct 59-kDa dystrophin-associated protein encoded on chromosome 8q23-24". Proc Natl Acad Sci U S A. 91 (10): 4446–50. doi:10.1073/pnas.91.10.4446. PMC 43802Freely accessible. PMID 8183929. 
  5. ^ Rousset R, Fabre S, Desbois C, Bantignies F, Jalinot P (Mar 1998). "The C-terminus of the HTLV-1 Tax oncoprotein mediates interaction with the PDZ domain of cellular proteins". Oncogene. 16 (5): 643–54. doi:10.1038/sj.onc.1201567. PMID 9482110. 
  6. ^ a b "Entrez Gene: SNTB1 syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1)". 
  7. ^ Ahn AH, Kunkel LM (Feb 1995). "Syntrophin binds to an alternatively spliced exon of dystrophin". J. Cell Biol. 128 (3): 363–71. doi:10.1083/jcb.128.3.363. PMC 2120343Freely accessible. PMID 7844150. 

Further reading[edit]