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 gene family contains numerous pseudogenes.
Gregory S.G., Nature 441:315-321(2006).
Mei G., Submitted (FEB-1999) to the EMBL/GenBank/DDBJ databases.
Applications:Suitable for use in Western Blot.
Other applications not tested.
Recommended Dilution:Western Blot: 1:500-1:3000Optimal dilutions to be determined by the researcher.
Storage and Stability:May be stored at 4°C for short-term only.
Aliquot to avoid repeated freezing and thawing.
Store at -20°C.
Aliquots are stable for 12 months after receipt.
For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap.
仕様
Size：100ul
Host：rabbit
Source Antibody：human
Grade：Affinity Purified
Purity：Purified by immunoaffinity chromatography.
Form：Supplied as a liquid in PBS, pH 7.4, 150mM sodium chloride, 0.02% sodium azide, 50% glycerol.
Specificity：Human
Isotype：IgG
Calc Applications Abbrev：WB
Calc Crossreactivity：Hu
Immunogen：Synthetic peptide corresponding to internal of human NBPF1/9/10/12/14/15/16/20.
