Gene: SMC1A

Alternate names for this Gene: CDLS2|DXS423E|EIEE85|SB1.8|SMC1|SMC1L1|SMC1alpha|SMCB

Gene Summary: Proper cohesion of sister chromatids is a prerequisite for the correct segregation of chromosomes during cell division. The cohesin multiprotein complex is required for sister chromatid cohesion. This complex is composed partly of two structural maintenance of chromosomes (SMC) proteins, SMC3 and either SMC1B or the protein encoded by this gene. Most of the cohesin complexes dissociate from the chromosomes before mitosis, although those complexes at the kinetochore remain. Therefore, the encoded protein is thought to be an important part of functional kinetochores. In addition, this protein interacts with BRCA1 and is phosphorylated by ATM, indicating a potential role for this protein in DNA repair. This gene, which belongs to the SMC gene family, is located in an area of the X-chromosome that escapes X inactivation. Mutations in this gene result in Cornelia de Lange syndrome. Alternative splicing results in multiple transcript variants encoding different isoforms.

Gene is located in Chromosome: X

Location in Chromosome : Xp11.22

Description of this Gene: structural maintenance of chromosomes 1A

Type of Gene: protein-coding

Gene: MIR6857

Alternate names for this Gene: hsa-mir-6857

Gene Summary: microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop.

Gene is located in Chromosome: X

Location in Chromosome : Xp11.22

Description of this Gene: microRNA 6857

Type of Gene: ncRNA

rs1556889640 in SMC1A;MIR6857 gene and Muscle hypotonia PMID 26752331 2016 De novo loss-of-function mutations in X-linked SMC1A cause severe ID and therapy-resistant epilepsy in females: expanding the phenotypic spectrum.

PMID 7757074 1995 The human SB1.8 gene (DXS423E) encodes a putative chromosome segregation protein conserved in lower eukaryotes and prokaryotes.

PMID 25537356 2015 Clinical utility gene card for: Cornelia de Lange syndrome.

PMID 28102598 2017 Novel findings of left ventricular non-compaction cardiomyopathy, microform cleft lip and poor vision in patient with SMC1A-associated Cornelia de Lange syndrome.

PMID 20635401 2010 Hypertrophic cardiomyopathy in a girl with Cornelia de Lange syndrome due to mutation in SMC1A.

PMID 22106055 2012 In-frame multi-exon deletion of SMC1A in a severely affected female with Cornelia de Lange Syndrome.

PMID 26354354 2015 Novel pathogenic variant (c.3178G>A) in the SMC1A gene in a family with Cornelia de Lange syndrome identified by exome sequencing.

PMID 26386245 2015 Novel SMC1A frameshift mutations in children with developmental delay and epilepsy.

PMID 28548707 2017 Phenotypes and genotypes in individuals with SMC1A variants.

PMID 23106691 2012 Proteomic profile identifies dysregulated pathways in Cornelia de Lange syndrome cells with distinct mutations in SMC1A and SMC3 genes.

PMID 24896178 2014 Genome sequencing identifies major causes of severe intellectual disability.

PMID 26358754 2015 Early-onset encephalopathy with epilepsy associated with a novel splice site mutation in SMC1A.

PMID 19842212 2010 Spectrum and consequences of SMC1A mutations: the unexpected involvement of a core component of cohesin in human disease.

PMID 17221863 2007 Incidence and clinical features of X-linked Cornelia de Lange syndrome due to SMC1L1 mutations.

PMID 16604071 2006 X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations.

PMID 17273969 2007 Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation.