ESPN gene

espin

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

From NCBI Gene:

This gene encodes a multifunctional actin-bundling protein. It plays a major role in regulating the organization, dimensions, dynamics, and signaling capacities of the actin filament-rich, microvillus-type specializations that mediate sensory transduction in various mechanosensory and chemosensory cells. Mutations in this gene are associated with autosomal recessive neurosensory deafness, and autosomal dominant sensorineural deafness without vestibular involvement. [provided by RefSeq, Nov 2009]

From UniProt:

Multifunctional actin-bundling protein. Plays a major role in regulating the organization, dimensions, dynamics and signaling capacities of the actin filament-rich, microvillus-type specializations that mediate sensory transduction in variouS mechanosensory and chemosensory cells.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Deafness, autosomal recessive 36, with or without vestibular involvement

From UniProt:

Deafness, autosomal recessive, 36, with or without vestibular involvement (DFNB36): 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. DFNB36 is characterized by prelingual, profound hearing loss, and vestibular areflexia in some patients. [MIM:609006]

Cytogenetic Location: 1p36.31, which is the short (p) arm of chromosome 1 at position 36.31

Molecular Location: base pairs 6,424,776 to 6,461,367 on chromosome 1 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 1p36.31, which is the short (p) arm of chromosome 1 at position 36.31
  • DFNB36
  • LP2654