人 FAM134B (NM_001034850) cDNA克隆

Accession: NM_001034850
基因名称: FAM134B
基因别名: JK1; JK-1
基因描述: Homo sapiens family with sequence similarity 134, member B (FAM134B), transcript variant 1, mRNA.
种属: Human
CDS区长度: 1494 (查看编码区序列)
翻译后氨基酸长度: 497 (查看氨基酸序列)
Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
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G105780 人 FAM134B (NM_001034850) cDNA克隆 pDONR223 2ug质粒 点击询价

The protein encoded by this gene is a cis-Golgi transmembrane protein that may be necessary for the long-term survival of nociceptive and autonomic ganglion neurons. Mutations in this gene are a cause of hereditary sensory and autonomic neuropathy type IIB (HSAN IIB), and this gene may also play a role in susceptibility to vascular dementia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]