This gene encodes a BTB-Kelch-related protein. The encoded protein may be involved in protein degradation. Mutations in this gene have been associated with retinitis pigmentosa 42. [provided by RefSeq, Feb 2010]
Accession: | NM_018846 |
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基因名称: | KLHL7 |
基因别名: | KLHL6; SBBI26 |
基因描述: | Homo sapiens kelch-like family member 7 (KLHL7), transcript variant 2, mRNA. |
种属: | Human |
CDS区长度: | 1617 (查看编码区序列) |
翻译后氨基酸长度: | 538 (查看氨基酸序列) |
Transcript Variant: | This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (2) is shorter than isoform 1. |
人 KLHL7 (NM_001031710) cDNA克隆 | transcript variant 1 |
人 KLHL7 (NM_018846) cDNA克隆 | transcript variant 2 |
人 KLHL7 (NM_001172428) cDNA克隆 | transcript variant 3 |
This gene encodes a BTB-Kelch-related protein. The encoded protein may be involved in protein degradation. Mutations in this gene have been associated with retinitis pigmentosa 42. [provided by RefSeq, Feb 2010]