Health Dictionary
Reliable, easy-to-read patient information on common medical conditions โ written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.
SNTB2
Introduction
Beta-2-syntrophin is a protein that in humans is encoded by the SNTB2 gene.[1][2][3]
Function
Function
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.[3]
References
References
- โ Ahn AH, Freener CA, Gussoni E, Yoshida M, Ozawa E, Kunkel LM (March 1996). “The three human syntrophin genes are expressed in diverse tissues, have distinct chromosomal locations, and each bind to dystrophin and its relatives”. J Biol Chem. 271 (5): 2724โ30. doi:10.1074/jbc.271.5.2724. PMIDย 8576247.
- โ Ahn AH, Yoshida M, Anderson MS, Feener CA, Selig S, Hagiwara Y, Ozawa E, Kunkel LM (June 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): 4446โ50. doi:10.1073/pnas.91.10.4446. PMCย 43802. PMIDย 8183929.
- โ 3.0 3.1 “Entrez Gene: SNTB2 syntrophin, beta 2 (dystrophin-associated protein A1, 59kDa, basic component 2)”.
- โ Buechler C, Boettcher A, Bared SM, Probst MC, Schmitz G (May 2002). “The carboxyterminus of the ATP-binding cassette transporter A1 interacts with a beta2-syntrophin/utrophin complex”. Biochem. Biophys. Res. Commun. 293 (2): 759โ65. doi:10.1016/S0006-291X(02)00303-0. PMIDย 12054535.
Further reading
Further reading
- Blake DJ (2002). “Dystrobrevin dynamics in muscle-cell signalling: a possible target for therapeutic intervention in Duchenne muscular dystrophy?”. Neuromuscul. Disord. 12 Suppl 1: S110โ7. doi:10.1016/S0960-8966(02)00091-3. PMIDย 12206805.
- Gee SH, Madhavan R, Levinson SR, Caldwell JH, Sealock R, Froehner SC (1998). “Interaction of muscle and brain sodium channels with multiple members of the syntrophin family of dystrophin-associated proteins”. J. Neurosci. 18 (1): 128โ37. PMIDย 9412493.
- Lumeng C, Phelps S, Crawford GE, Walden PD, Barald K, Chamberlain JS (1999). “Interactions between beta 2-syntrophin and a family of microtubule-associated serine/threonine kinases”. Nat. Neurosci. 2 (7): 611โ7. doi:10.1038/10165. PMIDย 10404183.
- Garcia RA, Vasudevan K, Buonanno A (2000). “The neuregulin receptor ErbB-4 interacts with PDZ-containing proteins at neuronal synapses”. Proc. Natl. Acad. Sci. U.S.A. 97 (7): 3596โ601. doi:10.1073/pnas.070042497. PMCย 16285. PMIDย 10725395.
- Adams ME, Kramarcy N, Krall SP, Rossi SG, Rotundo RL, Sealock R, Froehner SC (2000). “Absence of ฮฑ-Syntrophin Leads to Structurally Aberrant Neuromuscular Synapses Deficient in Utrophin”. J. Cell Biol. 150 (6): 1385โ98. doi:10.1083/jcb.150.6.1385. PMCย 2150701. PMIDย 10995443.
- Ort T, Maksimova E, Dirkx R, Kachinsky AM, Berghs S, Froehner SC, Solimena M (2001). “The receptor tyrosine phosphatase-like protein ICA512 binds the PDZ domains of beta2-syntrophin and nNOS in pancreatic beta-cells”. Eur. J. Cell Biol. 79 (9): 621โ30. doi:10.1078/0171-9335-00095. PMIDย 11043403.
- Marchand S, Stetzkowski-Marden F, Cartaud J (2001). “Differential targeting of components of the dystrophin complex to the postsynaptic membrane”. Eur. J. Neurosci. 13 (2): 221โ9. doi:10.1046/j.1460-9568.2001.01373.x. PMIDย 11168526.
- Hogan A, Shepherd L, Chabot J, Quenneville S, Prescott SM, Topham MK, Gee SH (2001). “Interaction of gamma 1-syntrophin with diacylglycerol kinase-zeta. Regulation of nuclear localization by PDZ interactions” (PDF). J. Biol. Chem. 276 (28): 26526โ33. doi:10.1074/jbc.M104156200. PMIDย 11352924.
- Ort T, Voronov S, Guo J, Zawalich K, Froehner SC, Zawalich W, Solimena M (2001). “Dephosphorylation of ฮฒ2-syntrophin and Ca2+/ยต-calpain-mediated cleavage of ICA512 upon stimulation of insulin secretion”. EMBO J. 20 (15): 4013โ23. doi:10.1093/emboj/20.15.4013. PMCย 149140. PMIDย 11483505.
- Buechler C, Boettcher A, Bared SM, Probst MC, Schmitz G (2002). “The carboxyterminus of the ATP-binding cassette transporter A1 interacts with a beta2-syntrophin/utrophin complex”. Biochem. Biophys. Res. Commun. 293 (2): 759โ65. doi:10.1016/S0006-291X(02)00303-0. PMIDย 12054535.
- Kutsenko AS, Gizatullin RZ, Al-Amin AN, Wang F, Kvasha SM, Podowski RM, Matushkin YG, Gyanchandani A, Muravenko OV, Levitsky VG, Kolchanov NA, Protopopov AI, Kashuba VI, Kisselev LL, Wasserman W, Wahlestedt C, Zabarovsky ER (2002). “NotI flanking sequences: a tool for gene discovery and verification of the human genome”. Nucleic Acids Res. 30 (14): 3163โ70. doi:10.1093/nar/gkf428. PMCย 135748. PMIDย 12136098.
- Chagnon P, Michaud J, Mitchell G, Mercier J, Marion JF, Drouin E, Rasquin-Weber A, Hudson TJ, Richter A (2003). “A Missense Mutation (R565W) in Cirhin (FLJ14728) in North American Indian Childhood Cirrhosis”. Am. J. Hum. Genet. 71 (6): 1443โ9. doi:10.1086/344580. PMCย 378590. PMIDย 12417987.
- Jones KJ, Compton AG, Yang N, Mills MA, Peters MF, Mowat D, Kunkel LM, Froehner SC, North KN (2003). “Deficiency of the syntrophins and alpha-dystrobrevin in patients with inherited myopathy”. Neuromuscul. Disord. 13 (6): 456โ67. doi:10.1016/S0960-8966(03)00066-X. PMIDย 12899872.
- Hillman RT, Green RE, Brenner SE (2005). “An unappreciated role for RNA surveillance”. Genome Biol. 5 (2): R8. doi:10.1186/gb-2004-5-2-r8. PMCย 395752. PMIDย 14759258.
- Leonoudakis D, Conti LR, Anderson S, Radeke CM, McGuire LM, Adams ME, Froehner SC, Yates JR, Vandenberg CA (2004). “Protein trafficking and anchoring complexes revealed by proteomic analysis of inward rectifier potassium channel (Kir2.x)-associated proteins”. J. Biol. Chem. 279 (21): 22331โ46. doi:10.1074/jbc.M400285200. PMIDย 15024025.