BLM (NM_000057) - Bloom syndrome RecQ like helicase

Bloom Syndrome Protein Isoform 1

Mutations Visualisation

Protein summary

This is preferred isoform of BLM protein. View all 4 isoforms
BLM: Bloom syndrome protein isoform 1
Description:

The Bloom syndrome gene product is related to the RecQ subset of DExH box-containing DNA helicases and has both DNA-stimulated ATPase and ATP-dependent DNA helicase activities. Mutations causing Bloom syndrome delete or alter helicase motifs and may disable the 3'-5' helicase activity. The normal protein may act to suppress inappropriate recombination. [provided by RefSeq, Jul 2008].

Strand
+
Chromosome
15
Protein
1417 residues
All mutations
236
PTM sites
81
CDS
91,290,622 - 91,358,509
Transcription
91,260,557 - 91,358,692
54.27% of sequence is predicted to be disordered

External references

Mappings retrieved from NCBI & Uniprot.
RefSeq
Entrez
gene: 641
Uniprot
Ensembl