Anti-X-linked deafness dystonia protein antibody produced in rabbit

Biological Activity

Mitochondrial import inner membrane translocase subunit Tim8 A is an enzyme encoded by the TIMM8A gene in humans. It encodes an evolutionarily conserved novel polypeptide necessary for normal human neurological development. Mutation in this gene causes deafness-dystonia-optic neuronopathy (DDON) syndrome. It is a rare X-linked recessive neurological disorder th at is involved in the transport and sorting of proteins to the mitochondrial inner membrane.