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BLM (NM_000057) - BLM 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 is an autosomal recessive disorder characterized by growth deficiency, microcephaly and immunodeficiency among others. It is caused by homozygous or compound heterozygous mutation in the gene encoding DNA helicase RecQ protein on chromosome 15q26. This Bloom-associated helicase unwinds a variety of DNA substrates including Holliday junction, and is involved in several pathways contributing to the maintenance of genome stability. Identification of pathogenic Bloom variants is required for heterozygote testing in at-risk families. [provided by RefSeq, May 2020].

Strand
+
Chromosome
15
Protein
1417 residues
All mutations
923
PTM sites
129
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