DTNA

From Wikipedia, the free encyclopedia

Dystrobrevin, alpha

Identifiers

DTNA; DRP3; D18S892E; DTN; LVNC1

External IDs

OMIM: 601239 MGI: 106039 HomoloGene: 20362

Gene ontology
Molecular Function:	• calcium ion binding • protein binding • zinc ion binding
Cellular Component:	• microsome • synapse
Biological Process:	• striated muscle contraction • signal transduction • neuromuscular synaptic transmission

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_001390 (mRNA)
NP_001381 (protein)

NM_010087 (mRNA)
NP_034217 (protein)

Location

Chr 18: 30.33 - 30.73 Mb

Chr 18: 23.56 - 23.79 Mb

Pubmed search

[1]

[2]

Dystrobrevin, alpha, also known as DTNA, is a human gene.^[1]

The protein encoded by this gene belongs to the dystrobrevin subfamily and the dystrophin family. This protein is a component of the dystrophin-associated protein complex (DPC). The DPC consists of dystrophin and several integral and peripheral membrane proteins, including dystroglycans, sarcoglycans, syntrophins and alpha- and beta-dystrobrevin. The DPC localizes to the sarcolemma and its disruption is associated with various forms of muscular dystrophy. This protein may be involved in the formation and stability of synapses as well as the clustering of nicotinic acetylcholine receptors. Multiple alternatively spliced transcript variants encoding different isoforms have been identified.^[1]

[edit] See also

Dystrobrevin

[edit] References

^ ^a ^b Entrez Gene: DTNA dystrobrevin, alpha.

[edit] Further reading

Straub V, Campbell KP (1997). "Muscular dystrophies and the dystrophin-glycoprotein complex.". Curr. Opin. Neurol. 10 (2): 168–75. PMID 9146999.
Ozawa E, Noguchi S, Mizuno Y, et al. (1998). "From dystrophinopathy to sarcoglycanopathy: evolution of a concept of muscular dystrophy.". Muscle Nerve 21 (4): 421–38. PMID 9533777.
Blake DJ (2002). "Dystrobrevin dynamics in muscle-cell signalling: a possible target for therapeutic intervention in Duchenne muscular dystrophy?". Neuromuscul. Disord. 12 Suppl 1: S110–7. PMID 12206805.
Ahn AH, Kunkel LM (1995). "Syntrophin binds to an alternatively spliced exon of dystrophin.". J. Cell Biol. 128 (3): 363–71. PMID 7844150.
Khurana TS, Engle EC, Bennett RR, et al. (1994). "(CA) repeat polymorphism in the chromosome 18 encoded dystrophin-like protein.". Hum. Mol. Genet. 3 (5): 841. PMID 8081380.
Ahn AH, Freener CA, Gussoni E, et al. (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): 2724–30. PMID 8576247.
Blake DJ, Nawrotzki R, Peters MF, et al. (1996). "Isoform diversity of dystrobrevin, the murine 87-kDa postsynaptic protein.". J. Biol. Chem. 271 (13): 7802–10. PMID 8631824.
Sadoulet-Puccio HM, Khurana TS, Cohen JB, Kunkel LM (1996). "Cloning and characterization of the human homologue of a dystrophin related phosphoprotein found at the Torpedo electric organ post-synaptic membrane.". Hum. Mol. Genet. 5 (4): 489–96. PMID 8845841.
Ambrose HJ, Blake DJ, Nawrotzki RA, Davies KE (1997). "Genomic organization of the mouse dystrobrevin gene: comparative analysis with the dystrophin gene.". Genomics 39 (3): 359–69. doi:10.1006/geno.1996.4515. PMID 9119373.
Metzinger L, Blake DJ, Squier MV, et al. (1997). "Dystrobrevin deficiency at the sarcolemma of patients with muscular dystrophy.". Hum. Mol. Genet. 6 (7): 1185–91. PMID 9215691.
Sadoulet-Puccio HM, Rajala M, Kunkel LM (1997). "Dystrobrevin and dystrophin: an interaction through coiled-coil motifs.". Proc. Natl. Acad. Sci. U.S.A. 94 (23): 12413–8. PMID 9356463.
Blake DJ, Nawrotzki R, Loh NY, et al. (1998). "beta-dystrobrevin, a member of the dystrophin-related protein family.". Proc. Natl. Acad. Sci. U.S.A. 95 (1): 241–6. PMID 9419360.
Nawrotzki R, Loh NY, Ruegg MA, et al. (1999). "Characterisation of alpha-dystrobrevin in muscle.". J. Cell. Sci. 111 ( Pt 17): 2595–605. PMID 9701558.
Blake DJ, Hawkes R, Benson MA, Beesley PW (1999). "Different dystrophin-like complexes are expressed in neurons and glia.". J. Cell Biol. 147 (3): 645–58. PMID 10545507.
Sadoulet-Puccio HM, Feener CA, Schaid DJ, et al. (2000). "The genomic organization of human dystrobrevin.". Neurogenetics 1 (1): 37–42. PMID 10735273.
Piluso G, Mirabella M, Ricci E, et al. (2000). "Gamma1- and gamma2-syntrophins, two novel dystrophin-binding proteins localized in neuronal cells.". J. Biol. Chem. 275 (21): 15851–60. doi:10.1074/jbc.M000439200. PMID 10747910.
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.
Tommasi di Vignano A, Di Zenzo G, Sudol M, et al. (2000). "Contribution of the different modules in the utrophin carboxy-terminal region to the formation and regulation of the DAP complex.". FEBS Lett. 471 (2-3): 229–34. PMID 10767429.