Statements (29)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeName |
DFNA36
DFNB11 DFNB7 |
| gptkbp:associatedWith |
deafness
|
| gptkbp:discoveredBy |
Kurima et al.
|
| gptkbp:discoveredIn |
2002
|
| gptkbp:encodes |
TMC1 protein
|
| gptkbp:Entrez_Gene_ID |
66060
|
| gptkbp:expressedIn |
gptkb:cochlea
|
| gptkbp:foundIn |
gptkb:Mus_musculus
gptkb:Homo_sapiens |
| gptkbp:fullName |
Transmembrane channel-like protein 1
|
| gptkbp:function |
involved in mechanotransduction in hair cells
|
| gptkbp:geneType |
protein-coding
|
| gptkbp:HGNC_ID |
11841
|
| https://www.w3.org/2000/01/rdf-schema#label |
TMC1
|
| gptkbp:locatedOnChromosome |
plus
chromosome 9q21 in humans |
| gptkbp:mutationAssociatedWith |
autosomal recessive non-syndromic hearing loss
autosomal dominant non-syndromic hearing loss |
| gptkbp:OMIM |
606706
|
| gptkbp:orthologIn |
Tmc1 (mouse)
|
| gptkbp:relatedTo |
TMC2
TMC3 |
| gptkbp:UniProtID |
Q8TDI8
|
| gptkbp:bfsParent |
gptkb:chromosome_9p13.3
gptkb:9q21.33 |
| gptkbp:bfsLayer |
8
|