Gene Symbol | ELMOD3 |
Entrez Gene ID | 84173 |
Full Name | ELMO domain containing 3 |
Synonyms | DFNB88,LST3,RBED1,RBM29 |
General protein information |
|
Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a member of the engulfment and cell motility family of GTPase-activating proteins that regulate Arf GTPase proteins. Members of this family are defined by a conserved engulfment and cell motility domain. In rat cochlea, the encoded protein is found in stereocilia, kinocilia and cuticular plate of developing hair cells suggesting a function for this protein in cochlear sensory cells. An allelic variant of this family has been associated with autosomal recessive nonsyndromic deafness-88 in humans. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016]. |
Disorder MIM: | |
Disorder Html: | ?Deafness, autosomal recessive 88, 615429 (3) |