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- accession：NM_001257195
- 基因别名：KLHL3
- 基因描述：Homo sapiens kelch-like family member 3 (KLHL3), transcript variant 3, mRNA.
- 载体：现货载体
- CDS区长度：1518
- 翻译后氨基酸长度：505
- TranscriptVariant：This variant (3) lacks multiple 5' coding exons and has an alternate 5' exon which results in the use of a downstream in-frame start codon, compared to variant 1. These differences result in a protein (isoform 3; also known as KLHL3c) with a shorter N-terminus, compared to isoform 1. This isoform is predicted to lack the protein binding BTB domain that is present in isoform 1.
- 基因简介：This gene is ubiquitously expressed and encodes a full-length protein which has an N-terminal BTB domain followed by a BACK domain and six kelch-like repeats in the C-terminus. These kelch-like repeats promote substrate ubiquitination of bound proteins via interaction of the BTB domain with the CUL3 (cullin 3) component of a cullin-RING E3 ubiquitin ligase (CRL) complex. Muatations in this gene cause pseudohypoaldosteronism type IID (PHA2D); a rare Mendelian syndrome featuring hypertension, hyperkalaemia and metabolic acidosis. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Mar 2012]
- 规格：10ul 质粒
CDS区参考序列： 点击查看序列翻译后氨基酸参数序列： 点击查看序列
