CSMD3 Antibody, FITC conjugated

1. Nonsynonymous variants of CSMD3 is associated with familial colorectal cancer. PMID: 21351276
2. CSMD3 encodes a protein with CUB and sushi multiple domains and is a candidate gene for benign adult familial myoclonic epilepsy on human chromosome 8q23.3-q24.1 PMID: 12943675
3. Breakpoints on chromosomes 8 in both patients do not interrupt any known gene but both map in a region containing the CSMD3 gene, which thereby can be considered as a candidate for autistic spectrum disorders PMID: 18270536
4. Single-nucleotide polymorphisms in CSMD3 is associated with prostate cancer risk in hispanic men. PMID: 19528667
5. CSMD3 is deleted in a subject with combined tricho-rhino-phalangeal syndrome II with mental retardation and growth hormone deficiency. PMID: 15523607
6. CSMD3 protein domain structure and the sequence of the cytoplasmic tail are highly conserved between mammals and fish. PMID: 12906867

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HGNC: 19291

OMIM: 608399

KEGG: hsa:114788

STRING: 9606.ENSP00000297405

UniGene: Hs.91381