DOHH
Description
The DOHH (deoxyhypusine hydroxylase) is a protein-coding gene located on chromosome 19.
Hearing loss is a partial or total inability to hear. It can be present at birth or acquired later in life. Hearing loss can affect one or both ears. In children, hearing problems can affect the ability to acquire spoken language, and in adults it can create difficulties with social interaction and at work. Hearing loss can be temporary or permanent. Hearing loss related to age usually affects both ears and is due to cochlear hair cell loss. In some people, particularly older people, hearing loss can result in loneliness. Hearing loss may be caused by a number of factors, including genetics, ageing, exposure to noise, some infections, birth complications, trauma to the ear, and certain medications or toxins. A common condition that results in hearing loss is chronic ear infections. Certain infections during pregnancy, such as cytomegalovirus, syphilis and rubella, may also cause hearing loss in the child.
Deoxyhypusine hydroxylase (hDOHH) is an enzyme that catalyzes the hydroxylation of the N(6)-(4-aminobutyl)-L-lysine intermediate produced by deoxyhypusine synthase (DHPS) on a critical lysine of the eukaryotic translation initiation factor 5A (eIF-5A). This is the second step in the post-translational modification of that lysine into an unusual amino acid residue named hypusine. Hypusination is unique to mature eIF-5A factor and is essential for its function. The enzyme's function is supported by the following evidence: UniProtKB:Q99LN9, HAMAP-Rule:MF_03101, PubMed:16371467, PubMed:16533814, PubMed:19706422.
DOHH is also known as HLRC1, NEDMVIC, hDOHH.
