You Searched For: Prosci

Catalog Number: (10100-780)

Supplier: Prosci

Description: The function of the protein encoded by the AIRE gene is not well defined. However it contains zinc finger motifs suggestive of a transcription factor. The protein (isoform 1) is localized to both the nucleus and cytoplasm. Defects in this gene cause the autosomal-recessive systemic autoimmune disease termed autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED).This gene encodes a transcriptional regulator that forms nuclear bodies and interacts with the transcriptional coactivator CBP. At least three splice variant mRNAs products have been described including one which results in a premature stop codon and a transcript predicted to be a candidate for nuclear-mediated decay (NMD). Defects in this gene cause the rare autosomal-recessive systemic autoimmune disease termed autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED).

Catalog Number: (10100-796)

Supplier: Prosci

Description: SMAD6 (mothers against decapentaplegic homolog 6) is an antagonist of signaling by TGF-beta (transforming growth factor) type 1 receptor superfamily members; has been shown to inhibit selectively BMP (bone morphogenetic proteins) signaling by competing with the co-SMAD SMAD4 for receptor-activated SMAD1. SMAD6 is an inhibitory SMAD (I-SMAD) or antagonistic SMAD.

Catalog Number: (10105-926)

Supplier: Prosci

Description: The function remains unknown.

Catalog Number: (10105-902)

Supplier: Prosci

Description: The MGC4618 is a hypothetical protein found in Chromosome 4

Catalog Number: (10105-884)

Supplier: Prosci

Description: FREQ is a member of the neuronal calcium sensor gene family, which encode calcium-binding proteins expressed predominantly in neurons. The protein encoded by this gene regulates G protein-coupled receptor phosphorylation in a calcium-dependent manner and can substitute for calmodulin. This protein is thought to be associated with secretory granules and may be involved in the regulation of neurosecretion.

Catalog Number: (10105-848)

Supplier: Prosci

Description: CXorf6 is a protein predicted based on an ORF found in chromosome 14

Catalog Number: (10105-904)

Supplier: Prosci

Description: COLQ encodes the subunit of a collagen-like molecule associated with acetylcholinesterase in skeletal muscle. Each molecule is composed of three identical subunits. Each subunit contains a proline-rich attachment domain (PRAD) that binds an acetylcholinesterase tetramer to anchor the catalytic subunit of the enzyme to the basal lamina. Mutations in COLQ are associated with endplate acetylcholinesterase deficiency.

Catalog Number: (10105-890)

Supplier: Prosci

Description: Located on chromosome 4, the RIPX encodes a protein with unknown function.

Catalog Number: (10105-866)

Supplier: Prosci

Description: Polycomb group (PcG) of proteins form the multiprotein complexes that are important for the transcription repression of various genes involved in development and cell proliferation. The protein encoded by RNF2 is one of the PcG proteins. It has been shown to interact with, and suppress the activity of, transcription factor CP2 (TFCP2/CP2). Studies of the mouse counterpart suggested the involvement of this gene in the specification of anterior-posterior axis, as well as in cell proliferation in early development. This protein was also found to interact with huntingtin interacting protein 2 (HIP2), an ubiquitin-conjugating enzyme, and possess ubiquitin ligase activity.

Catalog Number: (10105-844)

Supplier: Prosci

Description: BRD2 encodes a mitogen-activated kinase which localizes to the nucleus. BRD2 maps to the major histocompatability complex (MHC) class II region on chromosome 6p21.3 but sequence comparison suggests that the protein is not involved in the immune response. Homology to the Drosophila gene female sterile homeotic suggests that this human gene may be part of a signal transduction pathway involved in growth control.

Catalog Number: (10105-920)

Supplier: Prosci

Description: POU2F2 is a member of the POU family and is predominantly expressed in B cells, in activated T cells, and in the nervous system.

Catalog Number: (10105-838)

Supplier: Prosci

Description: ASH2L plays a role in hematopoiesis and is associated with some special kinds of leukemia. The amount of ASH2L transcripts is extremely high in fetal liver, testis, and leukemia cell lines with erythroid and megakaryocytic potential.

Catalog Number: (10105-864)

Supplier: Prosci

Description: CORO1A forms homodimers. It plays a role in the cross-linking of F-actin in the cell.

Catalog Number: (10100-302)

Supplier: Prosci

Description: The specific function of CCDC70 is not yet known.

Catalog Number: (10100-300)

Supplier: Prosci

Description: ACSBG2 belongs to the ATP-dependent AMP-binding enzyme family, bubblegum subfamily.ACSBG2 mediates activation of long-chain fatty acids for both synthesis of cellular lipids, and degradation via beta-oxidation. It is able to activate long-chain fatty acids. Also able to activate very long-chain fatty acids; however, the relevance of such activity is unclear in vivo. ACSBG2 has increased ability to activate oleic and linoleic acid. It may play a role in spermatogenesis.

Catalog Number: (10100-298)

Supplier: Prosci

Description: CLPB may function as a regulatory ATPase and be related to secretion/protein trafficking process.