| Gene Symbol |
USH1G
|
| Entrez Gene |
124590
|
| Alt Symbol |
ANKS4A, SANS
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
Usher syndrome 1G (autosomal recessive)
|
| Other Description |
Usher syndrome type-1G protein|scaffold protein containing ankyrin repeats and SAM domain
|
| Swissprots |
Q8N251 Q495M9
|
| Accessions |
EAW89212 Q495M9 AK091243 BAC03619 AK289804 BAF82493 AK296899 BAG59457 BC101096 AAI01097 BC101097 AAI01098 BC101098 AAI01099 BC101099 AAI01100 DC403891 XM_011524296 XP_011522598 NM_001282489 NP_001269418 NM_173477 NP_775748
|
| Function |
Required for normal development and maintenance of cochlear hair cell bundles. Anchoring/scaffolding protein that is a part of the functional network formed by USH1C, USH1G, CDH23 and MYO7A that mediates mechanotransduction in cochlear hair cells. Required for normal hearing. {ECO:0000269|PubMed:21709241}.
|
| Subcellular Location |
Cytoplasm, cytosol. Cytoplasm, cytoskeleton. Cell membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}. Note=Detected at the tip of cochlear hair cell stereocilia. Recruited to the cell membrane via interaction with CDH23 or PCDH15 (By similarity). {ECO:0000250}.
|
| Tissue Specificity |
Expressed in vestibule of the inner ear, eye and small intestine. {ECO:0000269|PubMed:12588794}.
|