ABCA12 : ATP binding cassette subfamily A member 12

The ABCA12 Gene: A Master Regulator of Skin Health

The ABCA12 gene is a hidden gem in our genetic makeup, responsible for encoding the ABCA12 protein that plays a vital role in maintaining the health and integrity of our skin. This protein acts as an "expressway," facilitating the transport of essential molecules across cell membranes, particularly in the outermost layer of skin, the epidermis.

Associated Diseases

Mutations in the ABCA12 gene are linked to a rare but debilitating skin condition called Harlequin ichthyosis (HI). This genetic disorder disrupts the normal development of the skin, causing it to thicken and form large, diamond-shaped scales. HI affects approximately 1 in 300,000 newborns and can lead to severe complications if left untreated.

Did you Know ?

The ABCA12 gene is composed of 12 exons, which are regions of DNA that code for the ABCA12 protein. Mutations in any of these exons can lead to Harlequin ichthyosis, highlighting the critical nature of each individual exon in the proper functioning of the gene.