structural maintenance of chromosomes 1A
Annotations refreshed 1 month ago.
Diagnostic Grade (Green)
Clefting
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)DDG2P
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)Early onset or syndromic epilepsy
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)Fetal anomalies
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)Holoprosencephaly
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)Intellectual disability
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)IUGR and IGF abnormalities
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)Limb disorders
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)+7 more panels — install the extension to see the full list inline on any page.
Cornelia de Lange syndrome
genetic developmental and epileptic encephalopathy
hereditary disease
Epileptic encephalopathy
atypical Rett syndrome
Wiedemann-Steiner syndrome
microcephaly
X-linked complex neurodevelopmental disorder
Global developmental delay
semilobar holoprosencephaly
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
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
Curated MONDO disease pages that list SMC1A among their top associated genes.
SMC1A · Q14683
Mean pLDDT
82.8/ 100
Confident
1,233 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
