This gene encodes a motor protein that transports mitochondria and synaptic vesicle precursors. Mutations in this gene cause Charcot-Marie-Tooth disease, type 2A1. [provided by RefSeq, Jul 2008]
Accession: | NM_183416 |
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基因名称: | KIF1B |
基因别名: | KLP; CMT2; CMT2A; CMT2A1; HMSNII; NBLST1 |
基因描述: | Homo sapiens kinesin family member 1B (KIF1B), transcript variant 2, mRNA. |
种属: | Human |
CDS区长度: | 3462 (查看编码区序列) |
翻译后氨基酸长度: | 1153 (查看氨基酸序列) |
Transcript Variant: | This variant (2) contains a different segment for its 3' coding region and 3' UTR, compared to variant 1. The resulting protein (isoform alpha) has a shorter and distinct C-terminus compared to isoform b. |
人 KIF1B (NM_015074) cDNA克隆 | transcript variant 1 |
人 KIF1B (NM_183416) cDNA克隆 | transcript variant 2 |
This gene encodes a motor protein that transports mitochondria and synaptic vesicle precursors. Mutations in this gene cause Charcot-Marie-Tooth disease, type 2A1. [provided by RefSeq, Jul 2008]