人 PDLIM3 (NM_001257962) cDNA克隆

Accession: NM_001257962
基因名称: PDLIM3
基因别名: ALP
基因描述: Homo sapiens PDZ and LIM domain 3 (PDLIM3), transcript variant 3, mRNA.
种属: Human
CDS区长度: 831 (查看编码区序列)
翻译后氨基酸长度: 276 (查看氨基酸序列)
Transcript Variant: This variant (3) lacks an exon in the coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (c) is shorter than isoform a.
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G105229 人 PDLIM3 (NM_001257962) cDNA克隆 pDONR223 2ug质粒 点击询价

The protein encoded by this gene contains a PDZ domain and a LIM domain, indicating that it may be involved in cytoskeletal assembly. In support of this, the encoded protein has been shown to bind the spectrin-like repeats of alpha-actinin-2 and to colocalize with alpha-actinin-2 at the Z lines of skeletal muscle. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. Aberrant alternative splicing of this gene may play a role in myotonic dystrophy. [provided by RefSeq, Apr 2012]