Connexin 26

These flashcards cover key concepts related to Connexin 26, its functions, associated hearing loss types, and related disorders.

Connexin 26

A member of the connexin protein family that is involved in the formation of gap junctions facilitating the transport of ions and molecules.

GJB2

The gene encoding Connexin 26, associated with gap junctions and auditory function.

SNHL

Sensorineural Hearing Loss, which may be caused by mutations in Connexin 26.

Potassium Recycling

The process maintained by Connexin 26 to ensure proper potassium ion concentration in the inner ear.

DFNB1

A type of hearing loss inherited in an autosomal recessive pattern, characterized by mild to profound hearing loss before speech.

DFNA3

A type of hearing loss inherited in an autosomal dominant pattern that can worsen over time.

Cochlear Implant

A treatment option for profound hearing loss that bypasses damaged auditory cells.

Bart-Pumphrey syndrome

A disorder characterized by leukonychia, palmoplantar keratoderma, and hearing loss.

Keratitis-ichthyosis-deafness (KID) syndrome

A condition involving inflammation of the cornea, dry skin, and deafness.

Vohwinkel syndrome

A disorder leading to hearing loss and skin abnormalities, including constrictive bands of fibrous tissue.