The protein encoded by this gene is a member of the C2H2 zinc finger protein family. This protein is predicted to have a pox virus and zinc finger (POZ) domain at the N-terminus and four zinc finger domains at the C-terminus. In human and mouse, the protein localizes to the nuclei of skeletal muscle cells. Knockdown of this gene in zebrafish results in abnormal skeletal muscle development and myofibrillar disorganization. A novel homozygous variant of the human gene has been associated with lethal congenital contracture syndrome, an autosomal recessive disorder that results in muscle wasting. [provided by RefSeq, Mar 2015]
SKU | Test Kits | Buffer | Dye Color | Order Now |
---|---|---|---|---|
ZBTB42-20-RE | 20 (40 μL) | 200 μL | Request Pricing | |
ZBTB42-20-OR | 20 (40 μL) | 200 μL | Request Pricing | |
ZBTB42-20-GO | 20 (40 μL) | 200 μL | Request Pricing | |
ZBTB42-20-GR | 20 (40 μL) | 200 μL | Request Pricing | |
ZBTB42-20-AQ | 20 (40 μL) | 200 μL | Request Pricing |
The protein encoded by this gene is a member of the C2H2 zinc finger protein family. This protein is predicted to have a pox virus and zinc finger (POZ) domain at the N-terminus and four zinc finger domains at the C-terminus. In human and mouse, the protein localizes to the nuclei of skeletal muscle cells. Knockdown of this gene in zebrafish results in abnormal skeletal muscle development and myofibrillar disorganization. A novel homozygous variant of the human gene has been associated with lethal congenital contracture syndrome, an autosomal recessive disorder that results in muscle wasting. [provided by RefSeq, Mar 2015]
Gene Symbol : ZBTB42
Gene Name : Zinc finger and BTB domain containing 42
Chromosome : CHR 14: 104,800,596-104,804,711
Locus : 14q32.33
Alt. Genes : CFM1
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