Overview

Location [1]
Xp11.22
Synonyms [1]
EIEE85, DXS423E, CDLS2, SMC1alpha, SMC1, SB1.8, SMC1L1, DEE85, SMCB

Structural maintenance of chromosomes 1A (SMC1A) is a gene that encodes a protein that functions as an integral component of functional kinetochores. The protein is also suspected to play a role in DNA repair. Missense mutations, nonsense mutations, silent mutations, frameshift deletions, and in-frame deletions are observed in cancers such as endometrial cancer, intestinal cancer, and stomach cancer.

Significance of SMC1A in Diseases

Acute Myeloid Leukemia +

Myelodysplastic Syndromes +

References

1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20180821. San Francisco CA: Github;2015. https://github.com/biocommons/uta

2. The UniProt Consortium. UniProt: a worldwide hub of protein knowledge. Nucleic Acids Research. 2019;47:D506-D515.

3. The AACR Project GENIE Consortium. AACR Project GENIE: powering precision medicine through an international consortium. Cancer Discovery. 2017;7(8):818-831. Dataset Version 8. This dataset does not represent the totality of the genetic landscape; see paper for more information.

4. All assertions and clinical trial landscape data are curated from primary sources. You can read more about the curation process here.