Recombinant Human Multiple C2 and transmembrane domain-containing protein 2 (MCTP2), Truncated

Uniprot Id

Q6DN12

Target Species

Human

Target Name

MCTP2

Target Full Name

Multiple C2 and transmembrane domain-containing protein 2

Target Function

Might play a role in the development of cardiac outflow tract.

Target Involvement

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).

Target Subcellular Location

Membrane; Multi-pass membrane protein.

Target Protein Families

MCTP family

Target Synonyms

MCTP2Multiple C2 and transmembrane domain-containing protein 2