BLM - Bloom syndrome protein - human protein (Medical)
 
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Protein
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BLM »  Bloom syndrome protein   [ EC 3.6.4.12 ]
 
Protein also known as:  DNA helicase, RecQ-like type 2 (RecQ2).
Gene name:  BLM
Family name: Helicase » RecQ
Entry whose protein(s) existence is based on evidence at protein level
extend overview
1 171 1
GENE REF ISO

Displayed isoform: Iso 1

 
 

Medical

 show evidences
Disease 
Bloom syndrome (BLM) [MIM:210900]: An autosomal recessive disorder. It is characterized by proportionate pre- and postnatal growth deficiency, sun-sensitive telangiectatic hypo- and hyperpigmented skin, predisposition to malignancy, and chromosomal instability. The disease is caused by mutations affecting the gene represented in this entry.  
  • CuratedUniProtKB
According to Orphanet, this protein is involved in the following disease:
Bloom syndrome  125  
 

Keywords

Disease 
Disease mutation  definition   [KW-0225]
Dwarfism  definition   [KW-0242]
Technical term 
Reference proteome  definition   [KW-1185]
 

Further external links

Organism-specific databases
CTD: 641
MIM: 210900
PharmGKB: PA25369
Polymorphism databases
DMDM: 1705486
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.