人 PABPN1 (NM_004643) cDNA克隆

Accession: NM_004643
基因名称: PABPN1
基因别名: OPMD; PAB2; PABII; PABP2; PABP-2
基因描述: Homo sapiens poly(A) binding protein, nuclear 1 (PABPN1), mRNA.
种属: Human
CDS区长度: 921 (查看编码区序列)
翻译后氨基酸长度: 306 (查看氨基酸序列)
产品编号 产品名称 载体 规格 价格
G165874 人 PABPN1 (NM_004643) cDNA克隆 pDONR223 2ug质粒 点击询价

This gene encodes an abundant nuclear protein that binds with high affinity to nascent poly(A) tails. The protein is required for progressive and efficient polymerization of poly(A) tails at the 3' ends of eukaryotic transcripts and controls the size of the poly(A) tail to about 250 nt. At steady-state, this protein is localized in the nucleus whereas a different poly(A) binding protein is localized in the cytoplasm. This gene contains a GCG trinucleotide repeat at the 5' end of the coding region, and expansion of this repeat from the normal 6 copies to 8-13 copies leads to autosomal dominant oculopharyngeal muscular dystrophy (OPMD) disease. Related pseudogenes have been identified on chromosomes 19 and X. Read-through transcription also exists between this gene and the neighboring upstream BCL2-like 2 (BCL2L2) gene. [provided by RefSeq, Dec 2010]