| BLM |
| LOCUS ID | 641 | ||||||||||
| GENE_SYMBOL | BLM | ||||||||||
| GENE NAME | BLM RecQ like helica | ||||||||||
| SYNONYMNS | BS, RECQ2, RECQL2, RECQL3, MGRISCE1 | ||||||||||
| CHROMOSOME | 15 | ||||||||||
| HOMOLOGENE ID | 47902 |
| microRNAs | NA | NA |
| GENE SUMMARY |
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| 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 r |
| OBSERVATIONS |
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| Complication | Evidence | PMID |
| Neuropathy | 1. Bloom syndrome is due to mutations in the BLM gene inducing the formation of an abnormal DNA helicase protein. | 28846287 |