Bloom syndrome | |||||||
---|---|---|---|---|---|---|---|
Identifiers | |||||||
Symbol | BLM | ||||||
NCBI gene | 641 | ||||||
HGNC | 1058 | ||||||
OMIM | 604610 | ||||||
RefSeq | NM_000057 | ||||||
UniProt | P54132 | ||||||
Other data | |||||||
Locus | Chr. 15 [1] | ||||||
|
RecQ protein-like 4 | |||||||
---|---|---|---|---|---|---|---|
Identifiers | |||||||
Symbol | RECQL4 | ||||||
NCBI gene | 9401 | ||||||
HGNC | 9949 | ||||||
OMIM | 603780 | ||||||
RefSeq | NM_004260 | ||||||
UniProt | O94761 | ||||||
Other data | |||||||
Locus | Chr. 8 q24.3 | ||||||
|
RecQ protein-like 5 | |||||||
---|---|---|---|---|---|---|---|
Identifiers | |||||||
Symbol | RECQL5 | ||||||
NCBI gene | 9400 | ||||||
HGNC | 9950 | ||||||
OMIM | 603781 | ||||||
RefSeq | NM_004259 | ||||||
UniProt | O94762 | ||||||
Other data | |||||||
Locus | Chr. 17 q25 | ||||||
|
RMI1, RecQ mediated genome instability 1 | |||||||
---|---|---|---|---|---|---|---|
Identifiers | |||||||
Symbol | RMI1 | ||||||
Alt. symbols | C9orf76 | ||||||
NCBI gene | 80010 | ||||||
HGNC | 25764 | ||||||
OMIM | 610404 | ||||||
RefSeq | NM_024945 | ||||||
UniProt | Q9H9A7 | ||||||
Other data | |||||||
Locus | Chr. 9 q22.1 | ||||||
|
Werner syndrome | |||||||
---|---|---|---|---|---|---|---|
Identifiers | |||||||
Symbol | WRN | ||||||
NCBI gene | 7486 | ||||||
HGNC | 12791 | ||||||
OMIM | 604611 | ||||||
RefSeq | NM_000553 | ||||||
UniProt | Q14191 | ||||||
Other data | |||||||
Locus | Chr. 8 p | ||||||
|
RecQ helicase is a family of helicase enzymes initially found in Escherichia coli[1] that has been shown to be important in genome maintenance.[2][3][4] They function through catalyzing the reaction ATP + H2O → ADP + P and thus driving the unwinding of paired DNA and translocating in the 3' to 5' direction. These enzymes can also drive the reaction NTP + H2O → NDP + P to drive the unwinding of either DNA or RNA.