Gene Symbol | ZBTB42 |
Entrez Gene ID | 100128927 |
Full Name | zinc finger and BTB domain containing 42 |
Synonyms | LCCS6,ZNF925 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. COMPLETENESS: complete on the 3' end. |
Disorder MIM: | |
Disorder Html: | ?Lethal congenital contracture syndrome 6, 616248 (3) |