NP_671729.2
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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NCBI Official Full Name
transmembrane inner ear expressed protein isoform 1
UniProt Protein Name
Transmembrane inner ear expressed protein
UniProt Entry Name
TMIE_HUMAN
UniProt Comments for TMIE
TMIE: Unknown. The protein may play some role in a cellular membrane location. May reside within an internal membrane compartment and function in pathways such as those involved in protein and/or vesicle trafficking. Alternatively, the mature protein may be localized in the plasma membrane and serve as a site of interaction for other molecules through its highly charged C-terminal domain. Defects in TMIE are the cause of deafness autosomal recessive type 6 (DFNB6). DFNB6 is a form of sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information.
Protein type: Membrane protein, integral
Chromosomal Location of Human Ortholog: 3p21
Cellular Component: integral to membrane
Biological Process: inner ear morphogenesis; sensory perception of sound
Disease: Deafness, Autosomal Recessive 6
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Products associated with anti-TMIE antibody
Diseases associated with anti-TMIE antibody
Organs/Tissues associated with anti-TMIE antibody
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