Antibody type
Monoclonal antibodies
Immunogen
Purified recombinant human SMC1A(N-terminus) protein fragments expressed in E.coli.
Specificity
This antibody detects endogenous levels of SMC1A (N-terminus) and does not cross-react with related proteins.
Constitute
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
Dilution rate
wb 1:1000 fcm 1:100
Purification process
The antibody was affinity-purified from mouse ascites by affinity-chromatography using epitope-specific immunogen.
Other name
Chromosome segregation protein SmcB;DXS423E;KIAA0178;MGC138332;Sb1.8;Segregation of mitotic chromosomes 1;SMC protein 1A;SMC-1-alpha;SMC-1A;SMC1 (structural maintenance of chromosomes 1 yeast) like 1;SMC1;SMC1 structural maintenance of chromosomes 1 like 1;SMC1A;SMC1A_HUMAN;SMC1alpha;SMC1L1;SMCB;Structural maintenance of chromosomes 1A;Structural maintenance of chromosomes protein 1A.
Background
structural maintenance of chromosomes 1A(SMC1A) Homo sapiens 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. Altern
Function
disease:Defects in SMC1A are the cause of Cornelia de Lange syndrome type 2 (CDLS2) [MIM:300590]; also known as Cornelia de Lange syndrome X-linked. CDLS is a clinically heterogeneous developmental disorder associated with malformations affecting multiple systems. CDLS is characterized by facial dysmorphisms, abnormal hands and feet, growth delay, cognitive retardation and various other malformations including gastroesophageal dysfunction and cardiac, ophthalmologic and genitourinary anomalies.,domain:The flexible hinge domain, which separates the large intramolecular coiled coil regions, allows the heterotypic interaction with the corresponding domain of SMC3, forming a V-shaped heterodimer. The two heads of the heterodimer are then connected by different ends of the cleavable RAD21 protein, forming a ring structure.,function:Involved in chromosome cohesion during cell cycle and in DNA
