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Gene : DAG1 Homo sapiens

Name  ? dystroglycan 1 Cytological Location  3p21.31
Brief Description  dystroglycan 1
description  This gene encodes dystroglycan, a central component of dystrophin-glycoprotein complex that links the extracellular matrix and the cytoskeleton in the skeletal muscle. The encoded preproprotein undergoes O- and N-glycosylation, and proteolytic processing to generate alpha and beta subunits. Certain mutations in this gene are known to cause distinct forms of muscular dystrophy. Alternative splicing results in multiple transcript variants, all encoding the same protein. [provided by RefSeq, Nov 2015]
  • synonyms:
  • uc021wxz.1,
  • alpha-dystroglycan,
  • MDDGC7,
  • MDDGA9,
  • dystroglycan 1 (dystrophin-associated glycoprotein 1),
  • beta-dystroglycan,
  • DAG,
  • MDDGC9,
  • A3a,
  • DAG,
  • NM_001165928,
  • AGRNR,
  • DAG1,
  • 156DAG,
  • A3a,
  • OTTHUMG00000156869,
  • L19711,
  • 156DAG,
  • LGMDR16,
  • AGRNR,
  • HGNC:2666,
  • dystrophin-associated glycoprotein-1
  • identifiers:
  • 1605,
  • ENSG00000173402,
  • DAG1

Genome feature

Region: gene ? Length: 66916  
Location: 3:49468703-49535618 Cyto location: 3p21.31


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SNPs

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Disease

2 Diseases

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Gene -> HPO annotation (Human Phenotype Ontology)

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Expression

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Other

574 SN Ps

5 Cross References

20 Data Sets

5 Homologues

0 Located Features

90 Rna Seq Results