SLC26A4

SLC26A4, also known as PDS (Pendred syndrome gene), is a protein-coding gene located on chromosome 7. The protein encoded by this gene is a transmembrane transporter involved in the movement of ions and molecules across cell membranes. Specifically, it is a member of the SLC26 family of transporters, which are known to transport a variety of substrates including sulfate, iodide, chloride, and bicarbonate.

Mutations in the SLC26A4 gene are associated with Pendred syndrome, an autosomal recessive disorder characterized by sensorineural hearing loss and goiter. The hearing loss is typically moderate to severe and present from birth, while the goiter may develop later in life. The mechanism by which SLC26A4 mutations lead to these symptoms is not fully understood but is thought to involve impaired iodide transport in the thyroid gland and altered fluid homeostasis in the inner ear.

Variations in SLC26A4 are also linked to other conditions, including non-syndromic hearing loss and enlarged vestibular aqueduct (EVA). EVA is a common malformation of the inner ear that can be an isolated finding or associated with hearing impairment. The role of SLC26A4 in the development and function of the inner ear and thyroid gland is an active area of research.