概述

  • 产品名称Anti-INPP5F抗体
    参阅全部 INPP5F 一抗
  • 描述
    兔多克隆抗体to INPP5F
  • 经测试应用适用于: WB, IHC-Pmore details
  • 种属反应性
    与反应: Human
    预测可用于: Mouse
  • 免疫原

    Synthetic peptide derived from N terminal domain of Human INPP5F protein

性能

应用

Our Abpromise guarantee covers the use of ab90620 in the following tested applications.

The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.

应用 Ab评论 说明
WB 1/500 - 1/2000. Predicted molecular weight: 104 kDa.
IHC-P Use at an assay dependent concentration.

靶标

  • 功能Converts phosphatidylinositol 4,5-bisphosphate to phosphatidylinositol 4-phosphate. Also converts inositol 1,4,5-trisphosphate to inositol 1,4-bisphosphate and inositol 1,3,4,5-tetrakisphosphate to inositol 1,3,4-trisphosphate. May function in lysosomal membrane trafficking by regulating the specific pool of phosphatidylinositol 4,5-bisphosphate that is associated with lysosomes.
  • 组织特异性Brain, skeletal muscle, heart, kidney, lung, placenta and fibroblasts.
  • 疾病相关Defects in OCRL are the cause of Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000]. It is an X-linked multisystem disorder affecting eyes, nervous system, and kidney. It is characterized by hydrophthalmia, cataract, mental retardation, vitamin D-resistant rickets, aminoaciduria, and reduced ammonia production by the kidney. Ocular abnormalities include cataract, glaucoma, microphthalmos, and decreased visual acuity. Developmental delay, hypotonia, behavior abnormalities, and areflexia are also present. Renal tubular involvement is characterized by impaired reabsorption of bicarbonate, amino acids, and phosphate. Musculoskeletal abnormalities such as joint hypermobility, dislocated hips, and fractures may develop as consequences of renal tubular acidosis and hypophosphatemia. Cataract is the only significant manifestation in carriers and is detected by slit-lamp examination.
    Defects in OCRL are the cause of Dent disease type 2 (DD2) [MIM:300555]. DD2 is a renal disease belonging to the 'Dent disease complex', a group of disorders characterized by proximal renal tubular defect, hypercalciuria, nephrocalcinosis, and renal insufficiency. The spectrum of phenotypic features is remarkably similar in the various disorders, except for differences in the severity of bone deformities and renal impairment. Characteristic abnormalities include low-molecular-weight proteinuria and other features of Fanconi syndrome, such as glycosuria, aminoaciduria, and phosphaturia, but typically do not include proximal renal tubular acidosis. Progressive renal failure is common, as are nephrocalcinosis and kidney stones.
  • 序列相似性Belongs to the inositol-1,4,5-trisphosphate 5-phosphatase type II family.
    Contains 1 Rho-GAP domain.
  • 细胞定位Endosome. Also found on macropinosomes.
  • Information by UniProt
  • 数据库链接
  • 别名
    • EC 3.1.3.36 antibody
    • Inositol polyphosphate 5 phosphatase OCRL 1 antibody
    • Inositol polyphosphate 5 phosphatase OCRL1 antibody
    • Inositol polyphosphate 5-phosphatase OCRL-1 antibody
    • INPP5F antibody
    • LOCR antibody
    • Lowe oculocerebrorenal syndrome protein antibody
    • NPHL2 antibody
    • OCRL 1 antibody
    • OCRL antibody
    • OCRL_HUMAN antibody
    • OCRL1 antibody
    • Oculocerebrorenal syndrome of Lowe antibody
    • Phosphatidylinositol polyphosphate 5 phosphatase antibody
    see all

Anti-INPP5F antibody (ab90620)参考文献

ab90620 has not yet been referenced specifically in any publications.

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