Recombinant Human ELMO domain-containing protein 3 (ELMOD3)

Uniprot Id

Q96FG2

Target Species

Human

Target Name

ELMOD3

Target Full Name

ELMO domain-containing protein 3

Target Function

Acts as a GTPase-activating protein (GAP) for ARL2 with low specific activity.

Target Involvement

Deafness, autosomal recessive, 88 (DFNB88)

Target Subcellular Location

Cell projection, stereocilium. Cell projection, kinocilium. Cytoplasm, cytoskeleton.

Target Tissue Specificity

Both isoform 1 and isoform 6 are widely expressed.

Target Synonyms

ELMOD3; RBED1; RBM29; PP4068ELMO domain-containing protein 3; RNA-binding motif and ELMO domain-containing protein 1; RNA-binding motif protein 29; RNA-binding protein 29

Target Background

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.