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Search Results for " autosomal recessive, severe "

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Cat. No.	Product Name	Species	Expression System
TMPY-02176	Harmonin/USH1C Protein, Human, Recombinant (His) PDZD7C,PDZ-73,PDZ73,DFNB18A,PDZ-73/NY-CO-38,DFNB18,NY-CO-37,...	Human	E. coli
	Harmonin, also known as Antigen NY-CO-38 / NY-CO-37, Autoimmune enteropathy-related antigen AIE-75, Protein PDZ-73, Renal carcinoma antigen NY-REN-3, Usher syndrome type-1C protein and USH1C, is a protein that is expressed in small intestine, colon, kidney, eye and weakly in pancreas. USH1C is expressed also in vestibule of the inner ear. USH1C contains 3 PDZ (DHR) domains. USH1C may be involved in protein-protein interaction. Defects in USH1C are the cause of Usher syndrome type 1C (USH1C), als...
TMPY-02707	PAH Protein, Human, Recombinant (415 Asn/Asp, His) phenylalanine hydroxylase,PH,PKU1,PKU	Human	Baculovirus Insect Cells
	PAH (phenylalanine hydroxylase), also known as PH, belongs to the biopterin-dependent aromatic amino acid hydroxylase family. It contains 1 ACT domain, N-terminal region of PAH is thought to contain allosteric binding sites for phenylalanine and to constitute an "inhibitory" domain that regulates the activity of a catalytic domain in the C-terminal portion of the molecule. In humans, PAH is expressed both in the liver and the kidney, and there is some indication that it may be differentially reg...
TMPK-01376	TROP-2 Protein, Mouse, Recombinant (aa 25-270, His) TACD2,gp50,TACSTD2,M1S1,TROP-2,GA733-1,T16,EGP-1,EGP1,TROP2	Mouse	HEK293 Cells
	Trop-2,also known as epithelial glycoprotein-1 antigen (EGP-1),is a protein that in humans is encoded by the TACSTD2 gene.Mutations of this gene result in gelatinous drop-like corneal dystrophy, an autosomal recessive disorder characterized by severe corneal amyloidosis leading to blindness.
TMPK-00417	MERTK/Mer Protein, Human, Recombinant (His) Tyro12,MGC133349,c-mer,MERTK,c-Eyk,RP38,MER	Human	HEK293 Cells
	MER tyrosine kinase (MERTK) encodes a surface receptor localized at the apical membrane of the retinal pigment epithelium. It plays a critical role in photoreceptor outer segment internalization prior to phagocytosis. Mutations in MERTK have been associated with severe autosomal recessive retinal dystrophies in the RCS rat and in humans. MERTK/Mer Protein, Human, Recombinant (His) is expressed in HEK293 mammalian cells with C-His tag. The predicted molecular weight is 53.73 kDa and the accession...
TMPK-00418	MERTK/Mer Protein, Human, Recombinant (mFc) MER,Tyro12,MERTK,c-Eyk,MGC133349,c-mer,RP38	Human	HEK293 Cells
	MER tyrosine kinase (MERTK) encodes a surface receptor localized at the apical membrane of the retinal pigment epithelium. It plays a critical role in photoreceptor outer segment internalization prior to phagocytosis. Mutations in MERTK have been associated with severe autosomal recessive retinal dystrophies in the RCS rat and in humans. MERTK/Mer Protein, Human, Recombinant (mFc) is expressed in HEK293 mammalian cells with C-mFc tag. The predicted molecular weight is 78.9 kDa and the accession ...
TMPK-01022	MERTK/Mer Protein, Mouse, Recombinant (His) Tyro12,c-Eyk,MGC133349,RP38,c-mer,MERTK,MER	Mouse	HEK293 Cells
	MER tyrosine kinase (MERTK) encodes a surface receptor localized at the apical membrane of the retinal pigment epithelium. It plays a critical role in photoreceptor outer segment internalization prior to phagocytosis. Mutations in MERTK have been associated with severe autosomal recessive retinal dystrophies in the RCS rat and in humans. MERTK/Mer Protein, Mouse, Recombinant (His) is expressed in HEK293 mammalian cells with C-His tag. The predicted molecular weight is 53.38 kDa and the accession...
TMPY-03282	FUCA1 Protein, Human, Recombinant (His) fucosidase, alpha-L- 1, tissue,fucosidase, α-L- 1, tissue,FU...	Human	HEK293 Cells
	FUCA1 is a lysosomal enzyme involved in the degradation of fucose-containing glycoproteins and glycolipids. Mutations in FUCA1 gene are associated with fucosidosis (FUCA1D), which is an autosomal recessive lysosomal storage disease. Different phenotypes include clinical features such as neurologic deterioration, growth retardation, visceromegaly, and seizures in a severe early form; coarse facial features, angiokeratoma corporis diffusum, spasticity and delayed psychomotor development in a longe...
TMPJ-01174	Cystatin B Protein, Mouse, Recombinant (His) PME,CST6cystatin B (liver thiol proteinase inhibitor)10STFBc...	Mouse	E. coli
	Cystatin B, also called stefin B or liver thiol proteinase inhibitor, is a member of family 1 of the cystatin superfamily. Like Cystatin A, it is an intracellular inhibitor regulating the activities of cysteine proteases of the papain family such as cathepsins B, H and L. Defects in Cystatin-B / CSTB are the cause of progressive myoclonic epilepsy type 1 (EPM1) which is an autosomal recessive disorder characterized by severe, stimulus-sensitive myoclonus and tonic-clonic seizures.
TMPJ-01114	GAMT Protein, Human, Recombinant (His) Guanidinoacetate N-methyltransferase,TP53I2,PIG2,GAMT	Human	E. coli
	GAMT is a methyltransferase which belongs to the class I-like SAM-binding methyltransferase superfamily. It contains one RMT2 (arginine N-methyltransferase 2-like) domain and is expressed in liver. GAMT converts guanidoacetate to creatine, using S-adenosylmethionine as the methyl donor. Defects in GAMT are the cause of guanidinoacetate methyltransferase deficiency, which is an autosomal recessive disorder characterized by developmental delay/regression, mental retardation, severe disturbance of ...
TMPJ-00732	ASS1 Protein, Human, Recombinant (His) Citrulline--Aspartate Ligase,Argininosuccinate Synthase,ASS1...	Human	E. coli
	Argininosuccinate Synthase (ASS1) is an urea cycle enzyme with a tetrameric structure composed of identical subunits. ASS1 is involved in the synthesis of arginine and catalyzes that condensation of citrulline and aspartate to argininosuccinate using ATP. ASS1 is important to the urea cycle as it catalyzes the important second last step in the arginine biosynthetic pathway. ASS1 mainly expressed in periportal hepatocytes, but also in most other body tissues. A deficiency of ASS1 causes citrullin...
TMPY-03985	Adenosine Deaminase Protein, Human, Recombinant (His) ADA1,adenosine deaminase,ADA	Human	Baculovirus Insect Cells
	Adenosine Desaminase (ADA) deficiency, is a purine metabolic disorder that cause severe combined immunodeficiency (SCID) due to the accumulation of toxic metabolites that primarily affects development, differentiation and function of T and B lymphocytes. Adenosine deaminase is a polymorphic enzyme that has an important role in immune functions and in the regulation of intracellular and extracellular concentrations of adenosine and adenosine receptor activity. ADA activity might be considered as...
TMPY-00344	ARL6IP6 Protein, Human, Recombinant (mFc) PFAAP1,AIP-6,ADP-ribosylation factor-like 6 interacting prot...	Human	HEK293 Cells
	It had been found that a homozygous truncating mutation in ARL6IP6 as the likely cause of a syndromic form of CMTC associated with major dysmorphism, developmental delay, transient ischemic attacks and cerebral vascular malformations. This gene was previously implicated by genome wide association study (GWAS) as a susceptibility locus to ischemic stroke in young adults. We identify ARL6IP6 as a novel candidate gene for a syndromic form of CMTC. This suggests that ischemic stroke or transient isc...
TMPJ-01034	TIM Protein, Human, Recombinant (His) TPI1,TPI,Triose-Phosphate Isomerase,Triosephosphate Isomeras...	Human	E. coli
	Triose-phosphate isomerase, also named Triose-phosphate isomerase, TPI and TIM, is an enzyme that catalyzes the reversible interconversion of the triose phosphate isomers dihydroxyacetone phosphate and D-glyceraldehyde 3-phosphate. TPI has been found in nearly every organism searched for the enzyme, including animals such as mammals and insects as well as in fungi, plants, and bacteria. However, some bacteria that do not perform glycolysis, like ureaplasmas, lack TPI. TPI plays an important role...
TMPY-03452	PTS Protein, Human, Recombinant (His) PTPS,PTS,6-pyruvoyltetrahydropterin synthase	Human	E. coli
	PTS(6-pyruvoyltetrahydropterin synthase) belongs to the PTPS family. It catalyzes the elimination of inorganic triphosphate from dihydroneopterin triphosphate, which is the second and irreversible step in the biosynthesis of tetrahydrobiopterin from GTP. Tetrahydrobiopterin, also known as BH(4), is an essential cofactor and regulator of various enzyme activities, including enzymes involved in serotonin biosynthesis and NO synthase activity. Mutations in this gene result in hyperphenylalaninemia....
TMPY-02090	Cystatin B Protein, Human, Recombinant (His) PME,EPM1A,STFB,ULD,cystatin B (stefin B),EPM1,CST6	Human	E. coli
	Cystatin-B, also known as CPI-B, Liver thiol proteinase inhibitor, Stefin-B, CSTB and CST6, is a cytoplasm and nucleus protein which belongs to thecystatin family. Cystatin-B / CSTB is an intracellular thiol proteinase inhibitor. Tightly binding reversible inhibitor of cathepsins L, H and B. Cystatin-B / CSTB is able to form a dimer stabilized by noncovalent forces, inhibiting papain and cathepsins l, h and b. Cystatin-B / CSTB is also thought to play a role in protecting against the prot...
TMPY-01852	CHST3 Protein, Mouse, Recombinant (His) C6ST-1,carbohydrate (chondroitin 6) sulfotransferase 3,GST-0...	Mouse	HEK293 Cells
	Carbohydrate sulfotransferase 3, also known as Chondroitin 6-O-sulfotransferase 1, Chondroitin 6-sulfotransferase and CHST3, is a single-pass type II membrane protein which belongs to thesulfotransferase 1 family and Gal / GlcNAc / GalNAc subfamily. CHST3 is widely expressed in adult tissues. It is expressed in heart, placenta, skeletal muscle and pancreas. CHST3 is also expressed in various immune tissues such as spleen, lymph node, thymus and appendix. CHST3 catalyzes the transfer of su...

重组蛋白

Harmonin/USH1C Protein, Human, Recombinant (His)

Cat.No: TMPY-02176

Species: Human

Expression System: E. coli

PAH Protein, Human, Recombinant (415 Asn/Asp, His)

Cat.No: TMPY-02707

Species: Human

Expression System: Baculovirus Insect Cells

TROP-2 Protein, Mouse, Recombinant (aa 25-270, His)

Cat.No: TMPK-01376

Species: Mouse

Expression System: HEK293 Cells

MERTK/Mer Protein, Human, Recombinant (His)

Cat.No: TMPK-00417

Species: Human

Expression System: HEK293 Cells

MERTK/Mer Protein, Human, Recombinant (mFc)

Cat.No: TMPK-00418

Species: Human

Expression System: HEK293 Cells

MERTK/Mer Protein, Mouse, Recombinant (His)

Cat.No: TMPK-01022

Species: Mouse

Expression System: HEK293 Cells

FUCA1 Protein, Human, Recombinant (His)

Cat.No: TMPY-03282

Species: Human

Expression System: HEK293 Cells

Cystatin B Protein, Mouse, Recombinant (His)

Cat.No: TMPJ-01174

Species: Mouse

Expression System: E. coli

GAMT Protein, Human, Recombinant (His)

Cat.No: TMPJ-01114

Species: Human

Expression System: E. coli

ASS1 Protein, Human, Recombinant (His)

Cat.No: TMPJ-00732

Species: Human

Expression System: E. coli

Adenosine Deaminase Protein, Human, Recombinant (His)

Cat.No: TMPY-03985

Species: Human

Expression System: Baculovirus Insect Cells

ARL6IP6 Protein, Human, Recombinant (mFc)

Cat.No: TMPY-00344

Species: Human

Expression System: HEK293 Cells

TIM Protein, Human, Recombinant (His)

Cat.No: TMPJ-01034

Species: Human

Expression System: E. coli

PTS Protein, Human, Recombinant (His)

Cat.No: TMPY-03452

Species: Human

Expression System: E. coli

Cystatin B Protein, Human, Recombinant (His)

Cat.No: TMPY-02090

Species: Human

Expression System: E. coli

CHST3 Protein, Mouse, Recombinant (His)

Cat.No: TMPY-01852

Species: Mouse

Expression System: HEK293 Cells

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