Disease-gene associations mined from literature

Literature associating SMC1A and eyelid disease

SMC1A [ENSP00000323421]

Structural maintenance of chromosomes protein 1A; Involved in chromosome cohesion during cell cycle and in DNA repair. Central component of cohesin complex. The cohesin complex is required for the cohesion of sister chromatids after DNA replication. The cohesin complex apparently forms a large proteinaceous ring within which sister chromatids can be trapped. At anaphase, the complex is cleaved and dissociates from chromatin, allowing sister chromatids to segregate. The cohesin complex may also play a role in spindle pole assembly during mitosis. Involved in DNA repair via its interaction with BRCA1 and its related phosphorylation by ATM, or via its phosphorylation by ATR. Works as a downstream effector both in the ATM/NBS1 branch and in the ATR/MSH2 branch of S-phase checkpoint; Belongs to the SMC family. SMC1 subfamily.

Synonyms:  SMC1A,  SMC1Ap,  hSMC1A,  H0Y7K8,  Q14683 ...

Linkouts:  STRING  Pharos  UniProt  OMIM