BMS1 gene

BMS1, ribosome biogenesis factor

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

May act as a molecular switch during maturation of the 40S ribosomal subunit in the nucleolus.

From NCBI Gene:

  • Aplasia cutis congenita

From UniProt:

Aplasia cutis congenita, non-syndromic (ACC): A disorder characterized by congenital absence of a portion of skin in a localized or widespread area of the body. The lesions are most commonly localized on the scalp, however aplasia cutis congenita can affect any part of the body. [MIM:107600]

Cytogenetic Location: 10q11.21, which is the long (q) arm of chromosome 10 at position 11.21

Molecular Location: base pairs 42,782,506 to 42,834,937 on chromosome 10 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 10q11.21, which is the long (q) arm of chromosome 10 at position 11.21
  • ACC
  • BMS1L