MCTP2 Antibody, HRP conjugated

1. Results identify MCTP2 as a novel genetic cause of coarctation of the aorta and related cardiac malformations. PMID: 23773997
2. MCTPs are evolutionarily conserved C2 domain proteins that are unusual in that the C2 domains are anchored in the membrane by two closely spaced transmembrane regions and represent Ca(2+)-binding but not phospholipid-binding modules PMID: 15528213
3. The present study suggested that MCPT2 gene as aputative susceptibility gene for schizophrenia of Scandinavian origin. PMID: 19223264

Heterozygosity for a 2.2-Mb deletion at chromosome 15q26.2, encompassing MCTP2, has been identified in a 10-year-old girl and her 3-year-old half brother, who had both coarctation of the aorta associated with dysmorphic features and ventricular septal defects. An intragenic MCTP2 duplication, leading to premature truncation (F697X) within the first transmembrane region of the protein, has also been observed in a male patient with a non-syndromic complex cardiac malformation involving coarctation, hypoplastic left heart, mitral atresia, bicuspid aortic valve and muscular ventricular septal defect. Although the link between left ventricular outflow tract malformations and MCTP2 could not be established, it has been proposed that defects in the MCTP2 gene may contribute to phenotype. This hypothesis is supported by the observation that Xenopus laevis embryos treated with MCTP2 morpholinos show no evidence of endocardial cushion formation at any level of the developing outflow tract (PubMed:23773997).

Membrane; Multi-pass membrane protein.

MCTP family

HGNC: 25636

OMIM: 616297

KEGG: hsa:55784

STRING: 9606.ENSP00000350377

UniGene: Hs.33368