基因注释：LDB3

官方名称：LIM domain binding 3

功能摘要：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].

• FUS 综合评分: 0.300 · 证据 1 条
• HNRNPK 综合评分: 0.300 · 证据 2 条
• fus 综合评分: 0.300 · 证据 1 条
• Mbnl2 综合评分: 0.262 · 证据 1 条
• MBNL2 综合评分: 0.200 · 证据 1 条
• Srsf3 综合评分: 0.150 · 证据 1 条
• Srsf4 综合评分: 0.150 · 证据 1 条
• Tardbp 综合评分: 0.150 · 证据 1 条
• U2af1 综合评分: 0.150 · 证据 1 条
• ELAVL3 综合评分: 0.100 · 证据 1 条
• RBM20 综合评分: 0.100 · 证据 2 条
• Rbm7 综合评分: 0.100 · 证据 1 条

该基因暂无关联疾病记录