Full name: ELMO domain containing 3

Gene type: protein coding

RefSeq status: REVIEWED

Also known as: DFNA81; DFNB88; LST3; RBED1; RBM29

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]

Expression: Ubiquitous expression in fat (RPKM 29.3), skin (RPKM 5.6) and 24 other tissues

Gene size: 36980bp

Exon count: 17