Family with sequence similarity 136 member A (FAM136A)

Family with sequence similarity 136 member A (FAM136A) is a gene that encodes a highly conserved, mitochondrially localized protein of currently unclear function. It is broadly expressed in human tissues and is particularly notable in the neurosensory epithelium of the crista ampullaris (inner ear). Mutations in FAM136A, including nonsense and missense variants, have been linked to familial Meniere's disease—a chronic inner ear disorder characterized by episodic vertigo, tinnitus, and hearing loss. Expression changes have also been reported in extraocular muscles in ophthalmoplegic myasthenia gravis, and somatic mutations or altered expression have been found in several cancers, such as lung carcinoma and oral tongue squamous cell carcinoma in never-smokers. The protein is presumed to contribute to mitochondrial integrity and cellular homeostasis in sensory and perhaps muscular tissues, but its precise molecular and biological roles remain to be defined through further functional studies.

Other names

Protein FAM136AFAM136AFLJ14668Hypothetical protein FLJ146682010309E21Rik (mouse)Family with sequence similarity 136, member A

None described, as FAM136A is not a validated drug target