SEC23A

SEC23A is a gene that in humans is encoded by the SEC23A protein. It is part of the COPII complex, which is responsible for transporting proteins from the endoplasmic reticulum to the Golgi apparatus. Mutations in this gene have been associated with Craniolenticulosutural dysplasia and Congenital dyserythropoietic anemia.

Function

The SEC23A protein is a component of the COPII complex, which mediates the transport of proteins from the rough endoplasmic reticulum to the Golgi apparatus. This protein complex is made up of five different proteins, including SEC23. The SEC23A protein is involved in forming the coat of the COPII complex around transport vesicles.

Clinical significance

Mutations in the SEC23A gene have been associated with two rare genetic disorders: Craniolenticulosutural dysplasia and Congenital dyserythropoietic anemia.

Craniolenticulosutural dysplasia is a rare condition characterized by late-closing fontanels, sutural cataracts, facial dysmorphisms and a skeletal dysplasia.

Congenital dyserythropoietic anemia is a group of rare inherited blood disorders characterized by ineffective erythropoiesis, and resulting in anemia.

See also

• COPII
• Endoplasmic reticulum
• Golgi apparatus
• Craniolenticulosutural dysplasia
• Congenital dyserythropoietic anemia

External links

• NCBI Gene
• NIH Genetics Home Reference

SEC23A Resources
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