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ELK Biotechnology

SKU:ES14555

NBPFC rabbit pAb

NBPFC rabbit pAb

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Size
Applications: WB
Reactivity: Human;Rat;Mouse;
Source: Rabbit
Dilution: WB 1:500-2000
Immunogen: Synthesized peptide derived from human NBPFC AA range: 119-169
Storage_stability: -20°C/1 year
Clonality: Polyclonal
Isotype: IgG
Concentration: 1 mg/ml
Human_swiss_prot_no: Q5TAG4
Subcellular_location: Cytoplasm .
Background: 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. Gene copy number variations in the 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
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