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Catalog Number: (89360-404)
Supplier: Genetex
Description: The protein encoded by this gene is a sequence-specific DNA-binding transcription factor involved in the activation of several developmental genes. The encoded protein can act as either a homodimer or heterodimer with other family members and is induced during retinoic acid-mediated differentiation. It plays a role in the development of the eyes, face, body wall, limbs, and neural tube. [provided by RefSeq]


Catalog Number: (10451-636)
Supplier: Bioss
Description: Defects in GORAB are the cause of geroderma osteodysplasticum (GO) [MIM:231070]; also known as gerodermia osteodysplastica or Walt Disney dwarfism. GO is a rare autosomal recessive disorder characterized by lax, wrinkled skin, joint laxity and a typical face with a prematurely aged appearance. Skeletal signs include severe osteoporosis leading to frequent fractures, malar and mandibular hypoplasia and a variable degree of growth retardation.


Catalog Number: (10451-658)
Supplier: Bioss
Description: Defects in GORAB are the cause of geroderma osteodysplasticum (GO) [MIM:231070]; also known as gerodermia osteodysplastica or Walt Disney dwarfism. GO is a rare autosomal recessive disorder characterized by lax, wrinkled skin, joint laxity and a typical face with a prematurely aged appearance. Skeletal signs include severe osteoporosis leading to frequent fractures, malar and mandibular hypoplasia and a variable degree of growth retardation.


Catalog Number: (10096-114)
Supplier: Proteintech
Description: TMX4(Thioredoxin-related transmembrane protein 4) is also named as KIAA1162, TXNDC13. It is a type I transmembrane protein, with a Trx-like domain facing the ER lumen and may be to enable protein folding in cooperation with these proteins consisting of folding complex in the ER. It could work as a reductase in the environment of the ER. The full length protein has a 23 amino acid signal peptide. This antibody is specific to TMX4.


Catalog Number: (10082-964)
Supplier: Proteintech
Description: AP1M2 is a subunit of the adaptor complex AP-1. It belongs to the adaptor complexes medium subunit family. Adaptor protein (AP) complexes are cytosolic heterotetramers that mediate the sorting of membrane proteins in the secretory and endocytic pathways. AP-1 is found at the cytoplasmic face of coated vesicles located at the Golgi complex, where it mediates both the recruitment of clathrin to the membrane and the recognition of sorting signals within the cytosolic tails of transmembrane receptors.


Catalog Number: (76009-818)
Supplier: Prosci
Description: The protein encoded by this gene is highly similar to the metaxin 2 protein from mouse, which has been shown to interact with the mitochondrial membrane protein metaxin 1. Because of this similarity, it is thought that the encoded protein is peripherally associated with the cytosolic face of the outer mitochondrial membrane, and that it is involved in the import of proteins into the mitochondrion. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 7.


Catalog Number: (10095-044)
Supplier: Proteintech
Description: SPAG4L,also named as SUN domain-containing protein 5 or Testis and spermatogenesis-related gene 4 protein, is a 379 amino acid protein, which contains 1 SUN domain. SPAG4L is widely expressed and localizes in the nucleus inner membrane. SPAG4L is restricted to the apical nuclear region of round spermatids that face the acrosomic vesicle. SPAG4L is involved in linkage of the acrosomic vesicle to the spermatid nucleus, and in acrosome biogenesis.


Catalog Number: (10082-958)
Supplier: Proteintech
Description: AP1B1 is a subunit of the adaptor complex AP-1 and is a member of the adaptin protein family. Adaptor protein (AP) complexes are cytosolic heterotetramers that mediate the sorting of membrane proteins in the secretory and endocytic pathways. AP-1 is found at the cytoplasmic face of coated vesicles located at the Golgi complex, where it mediates both the recruitment of clathrin to the membrane and the recognition of sorting signals within the cytosolic tails of transmembrane receptors.


Catalog Number: (10105-684)
Supplier: Prosci
Description: Tight junctions represent one mode of cell-to-cell adhesion in epithelial or endothelial cell sheets, forming continuous seals around cells and serving as a physical barrier to prevent solutes and water from passing freely through the paracellular space. These junctions are comprised of sets of continuous networking strands in the outwardly facing cytoplasmic leaflet, with complementary grooves in the inwardly facing extracytoplasmic leaflet. Claudin-16, a member of the claudin family, is an integral membrane protein and a component of tight junction strands. It is found primarily in the kidneys, specifically in the thick ascending limb of Henle, where it acts as either an intercellular pore or ion concentration sensor to regulate the paracellular resorption of magnesium ions. Defects in the corresponding gene are a cause of primary hypomagnesemia, which is characterized by massive renal magnesium wasting with hypomagnesemia and hypercalciuria, resulting in nephrocalcinosis and renal failure.Tight junctions represent one mode of cell-to-cell adhesion in epithelial or endothelial cell sheets, forming continuous seals around cells and serving as a physical barrier to prevent solutes and water from passing freely through the paracellular space. These junctions are comprised of sets of continuous networking strands in the outwardly facing cytoplasmic leaflet, with complementary grooves in the inwardly facing extracytoplasmic leaflet. The protein encoded by this gene, a member of the claudin family, is an integral membrane protein and a component of tight junction strands. It is found primarily in the kidneys, specifically in the thick ascending limb of Henle, where it acts as either an intercellular pore or ion concentration sensor to regulate the paracellular resorption of magnesium ions. Defects in this gene are a cause of primary hypomagnesemia, which is characterized by massive renal magnesium wasting with hypomagnesemia and hypercalciuria, resulting in nephrocalcinosis and renal failure. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Entrez Gene record to access additional publications.


Catalog Number: (10451-648)
Supplier: Bioss
Description: Defects in GORAB are the cause of geroderma osteodysplasticum (GO) [MIM:231070]; also known as gerodermia osteodysplastica or Walt Disney dwarfism. GO is a rare autosomal recessive disorder characterized by lax, wrinkled skin, joint laxity and a typical face with a prematurely aged appearance. Skeletal signs include severe osteoporosis leading to frequent fractures, malar and mandibular hypoplasia and a variable degree of growth retardation.


Catalog Number: (10451-654)
Supplier: Bioss
Description: Defects in GORAB are the cause of geroderma osteodysplasticum (GO) [MIM:231070]; also known as gerodermia osteodysplastica or Walt Disney dwarfism. GO is a rare autosomal recessive disorder characterized by lax, wrinkled skin, joint laxity and a typical face with a prematurely aged appearance. Skeletal signs include severe osteoporosis leading to frequent fractures, malar and mandibular hypoplasia and a variable degree of growth retardation.


Catalog Number: (76118-508)
Supplier: Bioss
Description: Defects in GORAB are the cause of geroderma osteodysplasticum (GO) [MIM:231070]; also known as gerodermia osteodysplastica or Walt Disney dwarfism. GO is a rare autosomal recessive disorder characterized by lax, wrinkled skin, joint laxity and a typical face with a prematurely aged appearance. Skeletal signs include severe osteoporosis leading to frequent fractures, malar and mandibular hypoplasia and a variable degree of growth retardation.


Catalog Number: (76118-510)
Supplier: Bioss
Description: Defects in GORAB are the cause of geroderma osteodysplasticum (GO) [MIM:231070]; also known as gerodermia osteodysplastica or Walt Disney dwarfism. GO is a rare autosomal recessive disorder characterized by lax, wrinkled skin, joint laxity and a typical face with a prematurely aged appearance. Skeletal signs include severe osteoporosis leading to frequent fractures, malar and mandibular hypoplasia and a variable degree of growth retardation.


Catalog Number: (10107-750)
Supplier: Prosci
Description: Tcfap2c is a sequence-specific DNA-binding protein that interacts with inducible viral and cellular enhancer elements to regulate transcription of selected genes. Tcfap2c binds to the consensus sequence 5'-GCCNNNGGC-3' and activate genes involved in a large spectrum of important biological functions including proper eye, face, body wall, limbs and neural tube development. They also suppress a number of genes including MCAM/MUC18, C/EBP alpha and MYC.


Catalog Number: (76012-346)
Supplier: Prosci
Description: Clathrin is a large, soluble protein composed of heavy and light chains. It functions as the main structural component of the lattice-type cytoplasmic face of coated pits and vesicles which entrap specific macromolecules during receptor-mediated endocytosis. This gene encodes one of two clathrin light chain proteins which are believed to function as regulatory elements. Alternative splicing results in multiple transcript variants.


Catalog Number: (10451-650)
Supplier: Bioss
Description: Defects in GORAB are the cause of geroderma osteodysplasticum (GO) [MIM:231070]; also known as gerodermia osteodysplastica or Walt Disney dwarfism. GO is a rare autosomal recessive disorder characterized by lax, wrinkled skin, joint laxity and a typical face with a prematurely aged appearance. Skeletal signs include severe osteoporosis leading to frequent fractures, malar and mandibular hypoplasia and a variable degree of growth retardation.


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