功能： disease:Defects in MARVELD2 are the cause of non-syndromic sensorineural deafness autosomal recessive type 49 (DFNB49) [MIM:610153]. DFNB49 is a form of 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.,function:Plays a role in the formation of the epithelial barriers. The separation of the endolymphatic and perilymphatic spaces of the organ of Corti from one another by epithelial barriers is required for normal hearing.,PTM:Phosphorylated upon DNA damage, probably by ATM or ATR.,similarity:Contains 1 MARVEL domain.,subcellular location:Found at tricellular contacts.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Cell membrane ; Multi-pass membrane protein . Cell junction, tight junction . Located at tricellular contacts. .
组织表达： Brain,Epithelium,Lung,Trachea,
科研货号： PLA006693
MALD2 Polyclonal Antibody
Catalog NoPLA006693
Product information
基因名称： MARVELD2 TRIC
蛋白名称： MARVEL domain-containing protein 2 (Tricellulin)
功能： disease:Defects in MARVELD2 are the cause of non-syndromic sensorineural deafness autosomal recessive type 49 (DFNB49) [MIM:610153]. DFNB49 is a form of 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.,function:Plays a role in the formation of the epithelial barriers. The separation of the endolymphatic and perilymphatic spaces of the organ of Corti from one another by epithelial barriers is required for normal hearing.,PTM:Phosphorylated upon DNA damage, probably by ATM or ATR.,similarity:Contains 1 MARVEL domain.,subcellular location:Found at tricellular contacts.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Cell membrane ; Multi-pass membrane protein . Cell junction, tight junction . Located at tricellular contacts. .
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