人 NBPF3 (NM_001256417) cDNA克隆

Accession: NM_001256417
基因名称: NBPF3
基因别名: AE2; RP11-293F5.5
基因描述: Homo sapiens neuroblastoma breakpoint family, member 3 (NBPF3), transcript variant 3, mRNA.
种属: Human
CDS区长度: 1692 (查看编码区序列)
翻译后氨基酸长度: 563 (查看氨基酸序列)
Transcript Variant: This variant (3) lacks an alternate exon in the coding region, compared to variant 1. The resulting protein (isoform 3) is shorter, compared to isoform 1.
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G109934 人 NBPF3 (NM_001256417) cDNA克隆 pDONR223 2ug质粒 点击询价

This gene is a member of the neuroblastoma breakpoint family (NBPF) which consists of dozens of recently duplicated genes primarily located in segmental duplications on human chromosome 1. This gene family has experienced its greatest expansion within the human lineage and has expanded, to a lesser extent, among primates in general. Members of this gene family are characterized by tandemly repeated copies of DUF1220 protein domains. DUF1220 copy number variations in human chromosomal region 1q21.1, where most DUF1220 domains are located, have been implicated in a number of developmental and neurogenetic diseases such as microcephaly, macrocephaly, autism, schizophrenia, mental retardation, congenital heart disease, neuroblastoma, and congenital kidney and urinary tract anomalies. Altered expression of some gene family members is associated with several types of cancer. This gene family contains numerous pseudogenes. [provided by RefSeq, Feb 2013]