Tbio LOXHD1 Lipoxygenase homology domain-containing protein 1

Protein Summary

Description

Involved in hearing. Required for normal function of hair cells in the inner ear (By similarity). 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 Accession IDs

• Q8IVV2
• B7WNN3
• B7WNT1
• B7WPI9
• H7BZ41
• Q6ZRY7
• Q86WW9
• Q96DL7

Gene Name

• LOXHD1

Ensembl ID

• ENST00000300591
• ENSP00000300591
• ENSG00000167210
• ENST00000398686
• ENSP00000381676
• ENST00000398705
• ENSP00000381692
• ENST00000441551
• ENSP00000387621

Symbol

• LH2D1
• DFNB77

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
tissue sample	0.65
molecular function	0.6
cell line	0.56
tissue	0.54
transcription factor	0.54

Protein Classes

No PANTHER Classes or DTO Classes found

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 22.78   (req: < 5)

Gene RIFs: 17   (req: <= 3)

Antibodies: 33   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 22.78   (req: >= 5)

Gene RIFs: 17   (req: > 3)

Antibodies: 33   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 3

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0