Aliases for ELMOD3 Gene
External Ids for ELMOD3 Gene
Previous HGNC Symbols for ELMOD3 Gene
Previous GeneCards Identifiers for ELMOD3 Gene
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]
GeneCards Summary for ELMOD3 Gene
ELMOD3 (ELMO Domain Containing 3) is a Protein Coding gene. Diseases associated with ELMOD3 include Deafness, Autosomal Recessive 88 and Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb. Gene Ontology (GO) annotations related to this gene include GTPase activator activity.
UniProtKB/Swiss-Prot for ELMOD3 Gene
Acts as a GTPase-activating protein (GAP) for ARL2 with low specific activity.