SGCA

From Wikipedia, the free encyclopedia

Sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)

Identifiers

SGCA; A2; 50-DAG; ADL; DAG2; DMDA2; LGMD2D; SCARMD1; adhalin

External IDs

Gene ontology
Molecular Function:	• calcium ion binding • protein binding
Cellular Component:	• cytoskeleton • dystrophin-associated glycoprotein complex • sarcoglycan complex • membrane • integral to membrane
Biological Process:	• muscle contraction • muscle development

Orthologs

Human

Mouse

Refseq

NM_000023 (mRNA)
NP_000014 (protein)

NM_009161 (mRNA)
NP_033187 (protein)

Location

Chr 17: 45.6 - 45.61 Mb

Chr 11: 94.78 - 94.79 Mb

Pubmed search

[1]

[2]

Sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein), also known as SGCA, is a human gene.^[1]

The dystrophin-glycoprotein complex (DGC) comprises a group of proteins that are critical to the stability of muscle fiber membranes and to the linking of the actin cytoskeleton to the extracellular matrix. Components of the DGC include dystrophin (MIM 300377), which is deficient in Duchenne muscular dystrophy (DMD; MIM 310200); syntrophins (e.g., MIM 600026); dystroglycans (MIM 128239); and sarcoglycans, such as adhalin, a 50-kD transmembrane protein (Roberds et al., 1993).[supplied by OMIM]^[1]

[edit] References

^ ^a ^b Entrez Gene: SGCA sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein).

[edit] Further reading

Kawai H, Akaike M, Endo T, et al. (1995). "Adhalin gene mutations in patients with autosomal recessive childhood onset muscular dystrophy with adhalin deficiency.". J. Clin. Invest. 96 (3): 1202-7. PMID 7657792.
Piccolo F, Roberds SL, Jeanpierre M, et al. (1995). "Primary adhalinopathy: a common cause of autosomal recessive muscular dystrophy of variable severity.". Nat. Genet. 10 (2): 243-5. doi:10.1038/ng0695-243. PMID 7663524.
Yang B, Jung D, Motto D, et al. (1995). "SH3 domain-mediated interaction of dystroglycan and Grb2.". J. Biol. Chem. 270 (20): 11711-4. PMID 7744812.
McNally EM, Yoshida M, Mizuno Y, et al. (1994). "Human adhalin is alternatively spliced and the gene is located on chromosome 17q21.". Proc. Natl. Acad. Sci. U.S.A. 91 (21): 9690-4. PMID 7937874.
Roberds SL, Leturcq F, Allamand V, et al. (1994). "Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy.". Cell 78 (4): 625-33. PMID 8069911.
Roberds SL, Anderson RD, Ibraghimov-Beskrovnaya O, Campbell KP (1993). "Primary structure and muscle-specific expression of the 50-kDa dystrophin-associated glycoprotein (adhalin).". J. Biol. Chem. 268 (32): 23739-42. PMID 8226900.
Bueno MR, Moreira ES, Vainzof M, et al. (1996). "A common missense mutation in the adhalin gene in three unrelated Brazilian families with a relatively mild form of autosomal recessive limb-girdle muscular dystrophy.". Hum. Mol. Genet. 4 (7): 1163-7. PMID 8528203.
Duggan DJ, Gorospe JR, Fanin M, et al. (1997). "Mutations in the sarcoglycan genes in patients with myopathy.". N. Engl. J. Med. 336 (9): 618-24. PMID 9032047.
Carrié A, Piccolo F, Leturcq F, et al. (1997). "Mutational diversity and hot spots in the alpha-sarcoglycan gene in autosomal recessive muscular dystrophy (LGMD2D).". J. Med. Genet. 34 (6): 470-5. PMID 9192266.
Angelini C, Fanin M, Menegazzo E, et al. (1998). "Homozygous alpha-sarcoglycan mutation in two siblings: one asymptomatic and one steroid-responsive mild limb-girdle muscular dystrophy patient.". Muscle Nerve 21 (6): 769-75. PMID 9585331.
Chan YM, Bönnemann CG, Lidov HG, Kunkel LM (1999). "Molecular organization of sarcoglycan complex in mouse myotubes in culture.". J. Cell Biol. 143 (7): 2033-44. PMID 9864373.
Bowe MA, Mendis DB, Fallon JR (2000). "The small leucine-rich repeat proteoglycan biglycan binds to alpha-dystroglycan and is upregulated in dystrophic muscle.". J. Cell Biol. 148 (4): 801-10. PMID 10684260.
Yoshida M, Hama H, Ishikawa-Sakurai M, et al. (2000). "Biochemical evidence for association of dystrobrevin with the sarcoglycan-sarcospan complex as a basis for understanding sarcoglycanopathy.". Hum. Mol. Genet. 9 (7): 1033-40. PMID 10767327.
Barresi R, Moore SA, Stolle CA, et al. (2001). "Expression of gamma -sarcoglycan in smooth muscle and its interaction with the smooth muscle sarcoglycan-sarcospan complex.". J. Biol. Chem. 275 (49): 38554-60. doi:10.1074/jbc.M007799200. PMID 10993904.
Wakayama Y, Inoue M, Kojima H, et al. (2002). "Localization of sarcoglycan, neuronal nitric oxide synthase, beta-dystroglycan, and dystrophin molecules in normal skeletal myofiber: triple immunogold labeling electron microscopy.". Microsc. Res. Tech. 55 (3): 154-63. doi:10.1002/jemt.1166. PMID 11747090.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899-903. doi:10.1073/pnas.242603899. PMID 12477932.
Walter MC, Dekomien G, Schlotter-Weigel B, et al. (2004). "Respiratory insufficiency as a presenting symptom of LGMD2D in adulthood.". Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology / edited by the Gaetano Conte Academy for the study of striated muscle diseases 23 (1): 1-5. PMID 15298081.
Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121-7. doi:10.1101/gr.2596504. PMID 15489334.
White SJ, Uitte de Willige S, Verbove D, et al. (2006). "Sarcoglycanopathies and the risk of undetected deletion alleles in diagnosis.". Hum. Mutat. 26 (1): 59. doi:10.1002/humu.9347. PMID 15954112.
Rual JF, Venkatesan K, Hao T, et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network.". Nature 437 (7062): 1173-8. doi:10.1038/nature04209. PMID 16189514.