ELMOD3 gene

ELMO domain containing 3

The information on this page was automatically extracted from online scientific databases.

From NCBI 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]

From UniProt:

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

Covered on Genetics Home Reference:

From NCBI Gene:

  • Deafness, autosomal recessive 88

From UniProt:

Deafness, autosomal recessive, 88 (DFNB88): A form of non-syndromic deafness characterized by prelingual onset of severe to profound mixed conductive and sensorineural hearing loss. [MIM:615429]

Cytogenetic Location: 2p11.2, which is the short (p) arm of chromosome 2 at position 11.2

Molecular Location: base pairs 85,354,394 to 85,391,752 on chromosome 2 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 2p11.2, which is the short (p) arm of chromosome 2 at position 11.2
  • DFNB88
  • LST3
  • RBED1
  • RBM29