EPS8L2 gene

EPS8 like 2

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

From NCBI Gene:

This gene encodes a member of the EPS8 gene family. The encoded protein, like other members of the family, is thought to link growth factor stimulation to actin organization, generating functional redundancy in the pathways that regulate actin cytoskeletal remodeling. [provided by RefSeq, Dec 2008]

From UniProt:

Stimulates guanine exchange activity of SOS1. May play a role in membrane ruffling and remodeling of the actin cytoskeleton. In the cochlea, is required for stereocilia maintenance in adult hair cells.

From NCBI Gene:

  • DEAFNESS, AUTOSOMAL RECESSIVE 106

From UniProt:

Deafness, autosomal recessive, 106 (DFNB106): A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. [MIM:617637]

Cytogenetic Location: 11p15.5, which is the short (p) arm of chromosome 11 at position 15.5

Molecular Location: base pairs 706,120 to 727,727 on chromosome 11 (Homo sapiens Annotation Release 109, GRCh38.p12) (NCBI)

Cytogenetic Location: 11p15.5, which is the short (p) arm of chromosome 11 at position 15.5
  • DFNB106
  • EPS8R2