Gene Symbol | RECQL4 |
Entrez Gene ID | 9401 |
Full Name | RecQ like helicase 4 |
Synonyms | RECQ4 |
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 DNA helicase that belongs to the RecQ helicase family. DNA helicases unwind double-stranded DNA into single-stranded DNAs and may modulate chromosome segregation. This gene is predominantly expressed in thymus and testis. Mutations in this gene are associated with Rothmund-Thomson, RAPADILINO and Baller-Gerold syndromes. [provided by RefSeq, Jan 2010]. |
Disorder MIM: | |
Disorder Html: | Rothmund-Thomson syndrome, 268400 (3); RAPADILINO syndrome, 266280 (3); Baller-Gerold syndrome, 218600 (3) |