background:
This gene encodes a member of the Snf2 family of helicase-like proteins. The encoded protein may play a role in DNA repair and mitochondrial function. Mutations in this gene have been associated with bone marrow failure syndrome 2. Alternatively spliced transcript variants that encode different protein isoforms have been described. [provided by RefSeq, Apr 2014]
Subcellular Location:
Nucleus.
Similarity:
Belongs to the SNF2/RAD54 helicase family.
Contains 1 helicase ATP-binding domain.
Contains 1 helicase SLCterminal domain.
Database links:
Entrez Gene: 375748 Human
Entrez Gene: 508357 Cow
Entrez Gene: 100728605 Guinea pig
Entrez Gene: 100063182 Horse
Entrez Gene: 76251 Mouse
Entrez Gene: 361197 Rat
SwissProt: Q5T890 Human
SwissProt: Q9JIM3 Mouse
Unigene: 432364 Human
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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