DISP1 Antibody

1. The top single-nucleotide polymorphism (SNP) was rs17162912 (P=1.76 x 10(-8)), which is near the DISP1 gene on 1q41-q42, a microdeletion region implicated in neurological development. PMID: 25824302
2. DISP-1 is required for non-small cell lung carcinoma cells proliferation PMID: 22733134
3. Studies indicate that DISP1 haploinsufficiency may not be solely responsible for the major features of 1q41q42 microdeletion syndrome, and other genes in the SRO likely play a role in the phenotype. PMID: 20951845
4. report of 1st de novo DISP1 point mutation in patient with congenital diaphragmatic hernia (CDH); finding with Disp1 embryonic mouse diaphragm and lung expression and previously reported 1q41q42 aberrations in CDH suggests DISP1 may be CDH candidate gene PMID: 20799323
5. describe two independent families with truncating mutations in DISP1 that resemble the cardinal craniofacial and neuro-developmental features of a recently described microdeletion syndrome that includes this gene PMID: 19184110

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HGNC: 19711

OMIM: 607502

KEGG: hsa:84976

STRING: 9606.ENSP00000284476

UniGene: Hs.528817