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Description:
C9orf79 is a 1445 amino acid single-pass membrane protein that belongs to the FAM75 family. The gene encoding C9orf79 maps to human chromosome 9, which consists of about 145 million bases and 4% of the human genome and encodes nearly 900 genes. Considered to play a role in gender determination, deletion of the distal portion of 9p can lead to development of male to female sex reversal, the phenotype of a female with a male X,Y genotype. Hereditary hemorrhagic telangiectasia, which is characterised by harmful vascular defects, is associated with the chromosome 9 gene encoding endoglin protein, ENG. Familial dysautonomia is also associated with chromosome 9 though through the gene IKBKAP. Notably, chromosome 9 encompasses the largest interferon family gene cluster. Chromosome 9 is partnered with chromosome 22 in the translocation leading to the aberrant production of BCR-ABL fusion protein often found in leukemias.
Description:
NuMA (Nuclear Mitotic Apparatus Protein) is an intranuclear protein and present in nucleus during interphase. At the onset of mitosis, it redistributes from the nucleus to two centrosomal structures that later will become part of the mitotic spindle pole. After anaphase, the protein redistributes from the spindle polar region into reforming nucleus. NuMA is an essential protein during mitosis for the terminal phases of chromosome separation and/or nuclear reassembly. Recently a study shows that NuMA is cleaved to a 180 to 200kDa during apoptosis.
Description:
Chromosome 9 consists of about 145 million bases and 4% of the human genome and encodes nearly 900 genes. Considered to play a role in gender determination, deletion of the distal portion of 9p can lead to development of male to female sex reversal, the phenotype of a female with a male X,Y genotype. Hereditary hemorrhagic telangiectasia, which is characterised by harmful vascular defects, is associated with the chromosome 9 gene encoding endoglin protein, ENG. Familial dysautonomia is also associated with chromosome 9 though through the gene IKBKAP. Notably, chromosome 9 encompasses the largest interferon family gene cluster. Chromosome 9 is partnered with chromosome 22 in the translocation leading to the aberrant production of BCR-ABL fusion protein often found in leukemias. The C9orf84 gene product has been provisionally designated C9orf84 pending further characterisation. There are two isoforms of C9orf84 that are produced as a result of alternative splicing events.
Description:
NuMA (Nuclear Mitotic Apparatus Protein) is an intranuclear protein and present in nucleus during interphase. At the onset of mitosis, it redistributes from the nucleus to two centrosomal structures that later will become part of the mitotic spindle pole. After anaphase, the protein redistributes from the spindle polar region into reforming nucleus. NuMA is an essential protein during mitosis for the terminal phases of chromosome separation and/or nuclear reassembly. Recently a study shows that NuMA is cleaved to a 180 to 200kDa during apoptosis.
Description:
NuMA (Nuclear Mitotic Apparatus Protein) is an intranuclear protein and present in nucleus during interphase. At the onset of mitosis, it redistributes from the nucleus to two centrosomal structures that later will become part of the mitotic spindle pole. After anaphase, the protein redistributes from the spindle polar region into reforming nucleus. NuMA is an essential protein during mitosis for the terminal phases of chromosome separation and/or nuclear reassembly. Recently a study shows that NuMA is cleaved to a 180 to 200kDa during apoptosis.
Description:
G-protein coupled receptor. Has been shown to bind the neuroprotective and glioprotective factor prosaposin (PSAP), leading to endocytosis followed by an ERK phosphorylation cascade. However, other studies have shown that prosaposin does not increase activity. It has been suggested that GPR37L1 is a constitutively active receptor which signals through the guanine nucleotide-binding protein G(s) subunit alpha. Participates in the regulation of postnatal cerebellar development by modulating the Shh pathway. Regulates baseline blood pressure in females and protects against cardiovascular stress in males. Mediates inhibition of astrocyte glutamate transporters and reduction in neuronal N-methyl-D-aspartate receptor activity.
Description:
G-protein coupled receptor. Has been shown to bind the neuroprotective and glioprotective factor prosaposin (PSAP), leading to endocytosis followed by an ERK phosphorylation cascade. However, other studies have shown that prosaposin does not increase activity. It has been suggested that GPR37L1 is a constitutively active receptor which signals through the guanine nucleotide-binding protein G(s) subunit alpha. Participates in the regulation of postnatal cerebellar development by modulating the Shh pathway. Regulates baseline blood pressure in females and protects against cardiovascular stress in males. Mediates inhibition of astrocyte glutamate transporters and reduction in neuronal N-methyl-D-aspartate receptor activity.
Description:
RelevanceHAX1 associates with HS1, binding to its N-terminal region. It is also known to associate with PKD2 (involved in polycystic kidney disease) and with cortactin/EMS1. HAX1 is also reported to bind to hairpin structures in vimentin and DNA polymerase beta mRNAs, so may play a role in mRNA stability and transport. It may also function in promoting cell survival. Defects in HAX1 are the cause of autosomal recessive severe congenital neutropenia 3 (SCN3) also called Kostmann disease.
Description:
Several protein-protein interactions are essential to membrane fusion during endocytosis. Membrane fusion requires interaction among SNARE1 proteins associated with both donor and acceptor membranes (1,2). Following membrane fusion, the α-SNAP cytoplasmic adapter protein binds to the SNARE complex. N-ethylmaleimide-sensitive factor (NSF), a hexameric ATPase, then associates with the α-SNAP/SNARE complex to mediate SNARE disassembly during membrane fusion (3,4). The ATPase activity of NSF induces a conformational change in the α-SNAP/SNARE complex that leads to its dissociation from the membrane, membrane fusion and eventual recycling of the SNARE complex for subsequent membrane fusion (3,4).
Description:
C9orf30 is a 275 amino acid protein that is expressed in brain and belongs to the UPF0439 family. The gene encoding C9orf30 maps to human chromosome 9q31.1. Chromosome 9 consists of about 145 million bases, represents 4% of the human genome and encodes nearly 900 genes. Thought to play a role in gender determination, deletion of the distal portion of 9p can lead to development of male to female sex reversal, the phenotype of a female with a male X,Y genotype. Hereditary hemorrhagic telangiectasia, which is characterised by harmful vascular defects, is associated with the chromosome 9 gene encoding endoglin protein, ENG. Familial dysautonomia is also associated with chromosome 9 though through the gene IKBKAP. Notably, chromosome 9 encompasses the largest interferon family gene cluster. Chromosome 9 is partnered with chromosome 22 in the translocation leading to the aberrant production of BCR-ABL fusion protein often found in leukemias.
Description:
Location-regulated scaffolding protein connecting MEK to RAF. Promotes MEK and RAF phosphorylation and activity through assembly of an activated signaling complex. By itself, it has no demonstrated kinase activity.
Description:
This gene encodes a member of the insulin-like hormone superfamily. The encoded protein is mainly produced in gonadal tissues. Studies of the mouse counterpart suggest that this gene may be involved in the development of urogenital tract and female fertility. This protein may also act as a hormone to regulate growth and differentiation of gubernaculum, and thus mediating intra-abdominal testicular descent. Mutations in this gene may lead to cryptorchidism. Alternate splicing results in multiple transcript variants.
Description:
This gene encodes a mitochondrial protein that is characterized by a poly-proline rich region. A chicken homolog of this protein promotes mitochondrial fission and the mouse homolog protects cells from oxidative stress. A related pseudogene of this gene is found on chromosome X.
Description:
MLC1 is a 377 amino acid multi-pass membrane protein that may serve as a non-selective neuronal cation channel in brain. Mutant MLC1 proteins that show impaired folding have been corrected in vitro with the addition of a Ca(2+)-ATPase inhibitor, curcumin. Mutations in the gene encoding MLC1 is the cause of megalencephalic leukoencephalopathy with subcortical cysts, also known as van der Knaap disease, a rare syndrome characterized early in life by progressive brain destruction causing mental retardation and incoordination. Single nucleotide polymorphisms within the MLC1 gene may be associated with periodic catatonia, but there seems to be conflicting evidence on whether or not the gene is implicated in general schizophrenia.
UOM:
1 * 100 µl
Promotion
,BOSSBS-7115R-CY3EA
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