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 |
|---|---|
| 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]