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SYNE4


Official Full Name
spectrin repeat containing nuclear envelope family member 4
Organism
Homo sapiens
Gene ID
163183
Background
This gene is a member of the nesprin family of genes, that encode KASH (Klarsicht, Anc-1, Syne Homology) domain-containing proteins. In addition to the KASH domain, this protein also contains a coiled-coil and leucine zipper region, a spectrin repeat, and a kinesin-1 binding region. This protein localizes to the outer nuclear membrane, and is part of the linker of nucleoskeleton and cytoskeleton (LINC) complex in the nuclear envelope. LINC complexes are formed by SUN (Sad1, UNC-84)-KASH pairs, and are thought to mechanically couple nuclear components to the cytoskeleton. Mutations in this gene have been associated with progressive high-frequency hearing loss. The absence of this protein in mice also caused hearing loss, and changes in hair cell morphology in the ears. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]
Synonyms
KASH4; Nesp4; DFNB76; C19orf46

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CDFH019075 Human SYNE4 cDNA Clone(NM_001039876.1) Inquiry
MiUTR1H-01207 SYNE4 miRNA 3'UTR clone Inquiry
MiUTR1R-06410 SYNE4 miRNA 3'UTR clone Inquiry
CDCB188620 Rabbit SYNE4 ORF clone (XM_002722228.2) Inquiry
CDCR037522 Human SYNE4 ORF clone (NM_001039876.1) Inquiry
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