The LDB3 gene homepage
| General information |
| Gene symbol |
LDB3 |
| Gene name |
LIM domain binding 3 |
| Chromosome |
10 |
| Chromosomal band |
q22.3-q23.2 |
| Imprinted |
- |
| Genomic reference |
NG_008876.1 |
| Transcript reference |
NM_007078.2 |
| Associated with diseases |
WD |
| Citation reference(s) |
Pan M et al, 2011
Zhang T et al, 2010 |
| Refseq URL |
Coding DNA reference sequence |
| Curators (0) |
- |
| Total number of public variants reported |
41 |
| Unique public DNA variants reported |
40 |
| Individuals with public variants |
0 |
| Hidden variants |
- |
| Notes |
This gene encodes a PDZ domain-containing protein. PDZ motifs are modular protein-protein interaction domains consisting of 80-120 amino acid residues. PDZ domain-containing proteins interact with each other in cytoskeletal assembly or with other proteins involved in targeting and clustering of membrane proteins. The protein encoded by this gene interacts with alpha-actinin-2 through its N-terminal PDZ domain and with protein kinase C via its C-terminal LIM domains. The LIM domain is a cysteine-rich motif defined by 50-60 amino acids containing two zinc-binding modules. This protein also interacts with all three members of the myozenin family. Mutations in this gene have been associated with myofibrillar myopathy and dilated cardiomyopathy. Alternatively spliced transcript variants encoding different isoforms have been identified; all isoforms have N-terminal PDZ domains while only longer isoforms (1, 2 and 5) have C-terminal LIM domains. [provided by RefSeq, Jan 2010]
Also known as: ZASP; CMD1C; LVNC3; CYPHER; LDB3Z1; LDB3Z4; ORACLE; PDLIM6 |
| Date created |
April 21, 2013 |
Active transcripts
| Copyright & disclaimer |
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