LDB3 peptide (251-262) (ab45811)

関連情報

• 別名
  • CMD1C
  • CYPHER
  • HGNC:15710

  • KIAA01613
  • KIAA0613
  • Ldb3
  • LDB3_HUMAN
  • LDB3Z1
  • LDB3Z4
  • LIM domain binding 3
  • LIM domain binding protein 3
  • LIM domain-binding protein 3
  • LVNC3
  • ORACLE
  • PDLIM6
  • PDZ and LIM domain 6
  • Protein cypher
  • Z band alternatively spliced PDZ motif
  • Z band alternatively spliced PDZ motif protein
  • Z-band alternatively spliced PDZ-motif protein
  • ZASP

  see all
• 機能May function as an adapter in striated muscle to couple protein kinase C-mediated signaling via its LIM domains to the cytoskeleton.
• 組織特異性Expressed primarily in skeletal muscle and to a lesser extent in heart. Also detected in brain and placenta.
• 関連疾患Defects in LDB3 are the cause of cardiomyopathy dilated type 1C (CMD1C) [MIM:601493]. Dilated cardiomyopathy is a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.
  Defects in LDB3 are the cause of left ventricular non-compaction type 3 (LVNC3) [MIM:601493]. Left ventricular non-compaction is characterized by numerous prominent trabeculations and deep intertrabecular recesses in hypertrophied and hypokinetic segments of the left ventricle.
  Defects in LDB3 are the cause of myopathy myofibrillar ZASP-related (MFM-ZASP) [MIM:609452]. A neuromuscular disorder characterized by distal and proximal muscle weakness with signs of cardiomyopathy and neuropathy.
• 配列類似性Contains 3 LIM zinc-binding domains.
  Contains 1 PDZ (DHR) domain.
• 細胞内局在Cytoplasm > perinuclear region. Cell projection > pseudopodium. Cytoplasm > cytoskeleton. Cytoplasm > myofibril > sarcomere > Z line. Localized to the cytoplasm around nuclei and pseudopodia of undifferentiated cells and detected throughout the myotubes of differentiated cells. Colocalizes with ACTN2 at the Z-lines.

• Target information above from: UniProt accession O75112 The UniProt Consortium
  The Universal Protein Resource (UniProt) in 2010
  Nucleic Acids Res. 38:D142-D148 (2010) .

  Information by UniProt