Gene: ELMOD3

Alternate names for this Gene: DFNB88|LST3|RBED1|RBM29

Gene 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.

Gene is located in Chromosome: 2

Location in Chromosome : 2p11.2

Description of this Gene: ELMO domain containing 3

Type of Gene: protein-coding

rs143448563 in ELMOD3 gene and Blood Protein Measurement PMID 30072576 2018 Co-regulatory networks of human serum proteins link genetics to disease.

rs587777040 in ELMOD3 gene and DEAFNESS, AUTOSOMAL RECESSIVE 88 PMID 24039609 2013 An alteration in ELMOD3, an Arl2 GTPase-activating protein, is associated with hearing impairment in humans.