BMS1

Chr 10AD

BMS1 ribosome biogenesis factor

Also known as: ACC, BMS1L

NCBI Gene: 9790 ENSG00000165733 UniProt: Q14692 OMIM: 611448

BMS1 encodes a GTPase required for 40S ribosomal subunit synthesis and pre-ribosomal RNA processing, controlling ribosome biogenesis by delivering the RCL1 endonuclease to pre-ribosomes in a GTP-dependent manner. Mutations cause autosomal dominant aplasia cutis congenita, a condition characterized by localized absence of skin typically present at birth. The gene is highly constrained against loss-of-function variants (LOEUF 0.448), indicating that such mutations are likely deleterious.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

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]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

?Aplasia cutis congenita, nonsyndromicMIM #107600

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.45

LOEUF

Mechanism· predicted