人 PEX16 (NM_057174) cDNA克隆

Accession: NM_057174
基因名称: PEX16
基因别名: PBD8A; PBD8B
基因描述: Homo sapiens peroxisomal biogenesis factor 16 (PEX16), transcript variant 2, mRNA.
种属: Human
CDS区长度: 1041 (查看编码区序列)
翻译后氨基酸长度: 346 (查看氨基酸序列)
Transcript Variant: This variant (2) uses an alternate terminal exon. The resulting protein (isoform 2) is longer and has a unique C-terminus compared to isoform 1.
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G109924 人 PEX16 (NM_057174) cDNA克隆 pDONR223 2ug质粒 点击询价

The protein encoded by this gene is an integral peroxisomal membrane protein. An inactivating nonsense mutation localized to this gene was observed in a patient with Zellweger syndrome of the complementation group CGD/CG9. Expression of this gene product morphologically and biochemically restores the formation of new peroxisomes, suggesting a role in peroxisome organization and biogenesis. Alternative splicing has been observed for this gene and two variants have been described. [provided by RefSeq, Jul 2008]