C1orf220,1号染色体开放阅读框220抗体 英文名称: Anti-C1orf220 antibody |
型号:null 抗体货号: HZ-15059R |
价格:请致电:010-57128832,18610462672 |
品牌: 中国/美国 产品商标: hzbscience |
C1orf220,1号染色体开放阅读框220抗体 产品编号HZ-15059R Database links:
|
Subcellular Location:
Lysosome membrane; Multi-pass membrane protein.
Tissue Specificity:
Strongly expressed in pancreas, kidney (adult and fetal) and in skeletal muscle. Expressed at lower levels in placenta and heart. Weakly expressed in lung, liver and brain (adult and fetal).
CTNS,胱氨酸抗体DISEASE:
Defects in CTNS are the cause of cystinosis nephropathic type (CTNS) [MIM:219800]. It is a form of cystinosis, a lysosomal storage disease due to defective transport of cystine across the lysosomal membrane. This results in cystine accumulation and crystallization in the cells causing widespread tissue damage. The classical nephropathic form has onset in the first year of life and is characterized by a polyuro-polydipsic syndrome, marked height-weight growth delay, generalized impaired proximal tubular reabsorptive capacity, with severe fluid-electrolyte balance alterations, renal failure, ocular symptoms and other systemic complications.
Defects in CTNS are the cause of cystinosis adult non-nephropathic type (CTNSANN) [MIM:219750]. It is a form of cystinosis, a lysosomal storage disease due to defective transport of cystine across the lysosomal membrane. This results in cystine accumulation and crystallization in the cells causing widespread tissue damage. Cystinosis adult non-nephropathic type is characterized by ocular features and a benigne course. Patients manifest mild photophobia due to conjunctival and corneal cystine crystals.
Defects in CTNS are the cause of cystinosis late-onset juvenile or adolescent nephropathic type (CTNSJAN) [MIM:219900]. It is a form of cystinosis, a lysosomal storage disease due to defective transport of cystine across the lysosomal membrane. This results in cystine accumulation and crystallization in the cells causing widespread tissue damage. Late-onset juvenile or adolescent nephropathic cystinosis manifests itself first at age 10 to 12 years with proteinuria due to glomerular damage rather than with the manifestations of tubular damage that occur first in infantile cystinosis. There is no excess amino aciduria and stature is normal. Photophobia, late development of pigmentary retinopathy, and chronic headaches are features.
Similarity:
Belongs to the cystinosin family.
Contains 2 PQ-loop domains.
Database links:
UniProtKB/Swiss-Prot: O60931.2
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
Storage / Stability | -20°C/1 year |
Human Gene ID | 84210 |
Human Swiss-Prot No. | Q5TYW2 |
Reactivity | Human |
Applications | WB ELISA |
Dilution | Western Blot: 1/500 - 1/2000. ELISA: 1/10000. Not yet tested in other applications. |
Predicted band (Da) | 94048 |
Observed band (KDa) | 95 |
| Western blot analysis of 3T3 using A20 antibody.. Secondary antibody(catalog#:RS0002) was diluted at 1:20000 |