UniProt Protein Function: | Involved in hearing. Required for normal function of hair cells in the inner ear (). |
UniProt Protein Details: | |
NCBI Summary: | This gene encodes a highly conserved protein consisting entirely of PLAT (polycystin/lipoxygenase/alpha-toxin) domains, thought to be involved in targeting proteins to the plasma membrane. Studies in mice show that this gene is expressed in the mechanosensory hair cells in the inner ear, and mutations in this gene lead to auditory defects, indicating that this gene is essential for normal hair cell function. Screening of human families segregating deafness identified a mutation in this gene which causes DFNB77, a progressive form of autosomal-recessive nonsyndromic hearing loss (ARNSHL). Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Mar 2010] |
UniProt Code: | Q8IVV2 |
NCBI GenInfo Identifier: | 808688336 |
NCBI Gene ID: | 125336 |
NCBI Accession: | NP_001294942.1 |
UniProt Secondary Accession: | Q8IVV2,Q6ZRY7, Q86WW9, Q96DL7, B7WNN3, B7WNT1, B7WPI9 |
UniProt Related Accession: | Q8IVV2 |
Molecular Weight: | |
NCBI Full Name: | lipoxygenase homology domain-containing protein 1 isoform 5 |
NCBI Synonym Full Names: | lipoxygenase homology domains 1 |
NCBI Official Symbol: | LOXHD1Â Â |
NCBI Official Synonym Symbols: | LH2D1; DFNB77Â Â |
NCBI Protein Information: | lipoxygenase homology domain-containing protein 1 |
UniProt Protein Name: | Lipoxygenase homology domain-containing protein 1 |
UniProt Synonym Protein Names: | |
Protein Family: | Lipoxygenase homology domain-containing protein |
UniProt Gene Name: | LOXHD1Â Â |
UniProt Entry Name: | |