TSPEAR gene

thrombospondin type laminin G domain and EAR repeats

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

From NCBI Gene:

This gene encodes a protein that contains a N-terminal thrombospondin-type laminin G domain and several tandem arranged epilepsy-associated repeats (EARs). A mutation in this gene is the cause of autosomal recessive deafness-98. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]

From UniProt:

May play a role in development or function of the auditory system.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Deafness, autosomal recessive 98

From UniProt:

Deafness, autosomal recessive, 98 (DFNB98): A form of non-syndromic sensorineural hearing loss with prelingual onset. 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:614861]

Cytogenetic Location: 21q22.3, which is the long (q) arm of chromosome 21 at position 22.3

Molecular Location: base pairs 44,497,892 to 44,711,580 on chromosome 21 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 21q22.3, which is the long (q) arm of chromosome 21 at position 22.3
  • C21orf29
  • DFNB98
  • TSP-EAR