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Gemin 3 Antibody- Mouse Anti-Gemin 3
The survival of motor neurons (SMN) gene is the disease gene of spinal muscular atrophy (SMA) a common motor neuron degenerative disease The SMN protein is part of a complex containing several proteins of which one SIP1 (SMN interacting protein 1) has been characterized so far The SMN complex is found in both the cytoplasm and in the nucleus where it is concentrated in bodies called gems In the cytoplasm SMN and SIP1 interact with the Sm core proteins of spliceosomal small nuclear ribonucleoproteins (snRNPs) and they play a critical role in snRNP assembly In the nucleus SMN is required for pre-mRNA splicing likely by serving in the regeneration of snRNPs A DEAD box putative RNA helicase named Gemin 3 which is another component of the SMN complex has been identified Gemin 3 interacts directly with SMN as well as with SmB SmD2 and SmD3 Immunolocalization studies using mAbs to Gemin 3 show that it colocalizes with SMN in gems Gemin 3 binds SMN via its unique COOH-terminal domain and SMN mutations found in some SMA patients strongly reduce this interaction The presence of a DEAD box motif in Gemin 3 suggests that it may provide the catalytic activity that plays a critical role in the function of the SMN complex on RNPs
£226.00
Gemin1/SMN Antibody- Mouse Anti-SMN
This gene is part of a 500 kb inverted duplication on chromosome 5q13 This duplicated region contains at least four genes and repetitive elements which make it prone to rearrangements and deletions The repetitiveness and complexity of the sequence have also caused difficulty in determining the organization of this genomic region The telomeric and centromeric copies of this gene are nearly identical and encode the same protein However mutations in this gene the telomeric copy are associated with spinal muscular atrophy mutations in the centromeric copy do not lead to disease The centromeric copy may be a modifier of disease caused by mutation in the telomeric copy The critical sequence difference between the two genes is a single nucleotide in exon 7 which is thought to be an exon splice enhancer It is thought that gene conversion events may involve the two genes leading to varying copy numbers of each gene The protein encoded by this gene localizes to both the cytoplasm and the nucleus Within the nucleus the protein localizes to subnuclear bodies called gems which are found near coiled bodies containing high concentrations of small ribonucleoproteins (snRNPs) This protein forms heteromeric complexes with proteins such as SIP1 and GEMIN 4 and also interacts with several proteins known to be involved in the biogenesis of snRNPs such as hnRNP U protein and the small nucleolar RNA binding protein Two transcript variants are produced by this gene
£226.00
Gemin2 Antibody- Mouse Anti-Gemin2
Involved in biogenesis of spliceosomal snRNPs forms complex with Survival of Motor Neurons (SMN) protein interacts tightly with spliceosomal proteins and spliceosomal snRNAs U1 and U5
£226.00
Gemin2 Antibody- Mouse Anti-Gemin2
Involved in biogenesis of spliceosomal snRNPs forms complex with Survival of Motor Neurons (SMN) protein interacts tightly with spliceosomal proteins and spliceosomal snRNAs U1 and U5
£183.00
Gemin3 Antibody- Mouse Anti-Gemin3
The survival of motor neurons (SMN) gene is the disease gene of spinal muscular atrophy (SMA) a common motor neuron degenerative disease The SMN protein is part of a complex containing several proteins of which one SIP1 (SMN interacting protein 1) has been characterized so far The SMN complex is found in both the cytoplasm and in the nucleus where it is concentrated in bodies called gems In the cytoplasm SMN and SIP1 interact with the Sm core proteins of spliceosomal small nuclear ribonucleoproteins (snRNPs) and they play a critical role in snRNP assembly In the nucleus SMN is required for pre-mRNA splicing likely by serving in the regeneration of snRNPs A DEAD box putative RNA helicase named Gemin 3 which is another component of the SMN complex has been identified Gemin 3 interacts directly with SMN as well as with SmB SmD2 and SmD3 Immunolocalization studies using mAbs to Gemin 3 show that it colocalizes with SMN in gems Gemin 3 binds SMN via its unique COOH-terminal domain and SMN mutations found in some SMA patients strongly reduce this interaction The presence of a DEAD box motif in Gemin 3 suggests that it may provide the catalytic activity that plays a critical role in the function of the SMN complex on RNPs
£183.00
SMN (Gemin1) Antibody- Mouse Anti-SMN
This gene is part of a 500 kb inverted duplication on chromosome 5q13 This duplicated region contains at least four genes and repetitive elements which make it prone to rearrangements and deletions The repetitiveness and complexity of the sequence have also caused difficulty in determining the organization of this genomic region The telomeric and centromeric copies of this gene are nearly identical and encode the same protein However mutations in this gene the telomeric copy are associated with spinal muscular atrophy mutations in the centromeric copy do not lead to disease The centromeric copy may be a modifier of disease caused by mutation in the telomeric copy The critical sequence difference between the two genes is a single nucleotide in exon 7 which is thought to be an exon splice enhancer It is thought that gene conversion events may involve the two genes leading to varying copy numbers of each gene The protein encoded by this gene localizes to both the cytoplasm and the nucleus Within the nucleus the protein localizes to subnuclear bodies called gems which are found near coiled bodies containing high concentrations of small ribonucleoproteins (snRNPs) This protein forms heteromeric complexes with proteins such as SIP1 and GEMIN 4 and also interacts with several proteins known to be involved in the biogenesis of snRNPs such as hnRNP U protein and the small nucleolar RNA binding protein Two transcript variants are produced by this gene
£183.00
