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ACOGS

Chr 18AD

cadherin 2

Also known as: ACOGS, ADHD8, ARVD14, CD325, CDHN, CDw325, NCAD

NCBI Gene: 1000 OMIM: 618929

This protein is a classical cadherin that functions as a calcium-dependent cell adhesion molecule involved in establishing left-right body asymmetry and development of the nervous system, cartilage, and bone. Mutations cause agenesis of corpus callosum, cardiac, ocular, and genital syndrome, which affects multiple organ systems including the brain, heart, eyes, and genitals. The condition follows autosomal dominant inheritance.

OMIM ResearchSummary from RefSeq, OMIM

This gene encodes a classical cadherin and member of the cadherin superfamily. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein is proteolytically processed to generate a calcium-dependent cell adhesion molecule and glycoprotein. This protein plays a role in the establishment of left-right asymmetry, development of the nervous system and the formation of cartilage and bone. [provided by RefSeq, Nov 2015]

OMIM ResearchGenerating clinical summary…