BMS1 Chromosome 10
BMS1 ribosome biogenesis factor
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What This Gene Does
This gene likely encodes a ribosome assembly protein. A similar protein in yeast functions in 35S-rRNA processing, which includes a series of cleavage steps critical for formation of 40S ribosomes. Related pseudogenes exist on chromosomes 2, 9, 10, 15, 16, and 22.[provided by RefSeq, Mar 2009]
Gene Info
Gene Group
SSU processome
Locus Type
gene with protein product
Location
10q11.21
Ensembl
ENSG00000165733
Associated Conditions (2)
BMS1-related disorder
Aplasia cutis congenita
Key Variants
RS141144834
Conflicting classifications of pathogenicity
Health Risk
RS147307707
Conflicting classifications of pathogenicity
BMS1-related disorder, BMS1-related disorder
Health Risk
RS77961452
Conflicting classifications of pathogenicity
Health Risk
RS587777706
Pathogenic
Aplasia cutis congenita, Aplasia cutis congenita
Health Risk
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS141144834 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS147307707 | Health Risk | Conflicting classifications of pathogenicity | BMS1-related disorder, BMS1-related disorder |
| RS77961452 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS587777706 | Health Risk | Pathogenic | Aplasia cutis congenita, Aplasia cutis congenita |