Gene Symbol | TSPEAR |
Entrez Gene ID | 54084 |
Full Name | thrombospondin type laminin G domain and EAR repeats |
Synonyms | C21orf29,DFNB98,TSP-EAR |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Deafness, autosomal recessive 98, 614861 (3) |