产品货号 :  mlR18731

英文名称 :  mucolipin 1

中文名称 :  粘脂蛋白1抗体

别    名 :  MCLN1_HUMAN ; Mcoln 1 ; Mcoln1 ; MG 2 ; MG-2 ; MG2 ; ML 4 ; ML4 ; MLIV ; MST080 ; MSTP080 ; Mucolipidin ; Mucolipin-1 ; Mucolipin1 ; TRP ML1 ; TRPML1.  

研究领域 :  细胞生物  免疫学  信号转导  跨膜蛋白  

抗体来源 :  Rabbit

克隆类型 :  Polyclonal

交叉反应 :  Human, Mouse, Rat, Pig, Cow, Rabbit, Sheep, Monkey, Cat,

产品应用 :  ELISA=1:500-1000 IHC-P=1:400-800 IHC-F=1:400-800 ICC=1:100-500 IF=1:100-500 （石蜡切片需做抗原修复）
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.

分 子 量 :  65kDa

细胞定位 :  细胞膜

性    状 :  Lyophilized or Liquid

浓    度 :  1mg/ml

免 疫 原 :  KLH conjugated synthetic peptide derived from human mucolipin 1:501-580/580

亚    型 :  IgG

纯化方法 :  affinity purified by Protein A

储 存 液 :  0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol.

保存条件 :  Store at -20 °C for one year. Avoid repeated freeze/thaw cycles. The lyophilized antibody is stable at room temperature for at least one month and for greater than a year when kept at -20°C. When reconstituted in sterile pH 7.4 0.01M PBS or diluent of antibody the antibody is stable for at least two weeks at 2-4 °C.

PubMed :  PubMed

产品介绍 :  This gene encodes a memberof the transient receptor potential (TRP) cation channel gene family. The transmembrane protein localizes to intracellular vesicular membranes including lysosomes, and functions in the late endocytic pathway and in the regulation of lysosomal exocytosis. The channel is permeable to Ca(2+), Fe(2+), Na(+), K(+), and H(+), and is modulated by changes in Ca(2+) concentration. Mutations in this gene result in mucolipidosis type IV. [provided by RefSeq, Oct 2009]

Function:

Cation channel probably playing a role in the endocytic pathway and in the control of membrane trafficking of proteins and lipids. Could play a major role in Ca(2+) transport regulating lysosomal exocytosis.

Subcellular Location:

Cell membrane. Late endosome membrane. Lysosome membrane.Entrez Gene: 57192 Human Entrez Gene: 94178 Mouse Entrez Gene: 288371 Rat Omim: 605248 Human SwissProt: Q9GZU1 Human SwissProt: Q99J21 Mouse Unigene: 567548 Human Unigene: 631858 Human Unigene: 8356 Mouse

Tissue Specificity:

Widely expressed in adult and fetal tissues.

DISEASE:

Defects in MCOLN1 are the cause of mucolipidosis type IV (MLIV) [MIM:252650]; also known as sialolipidosis. MLIV is an autosomal recessive lysosomal storage disorder characterized by severe psychomotor retardation and ophthalmologic abnormalities, including corneal opacity, retinal degeneration and strabismus. Storage bodies of lipids and water-soluble substances are seen by electron microscopy in almost every cell type of the patients. Most patients are unable to speak or walk independently and reach a maximal developmental level of 1-2 years. All patients have constitutive achlorhydia associated with a secondary elevation of serum gastrin levels. MLIV may be due to a defect in sorting and/or transport along the late endocytic pathway. MLIV is found at relatively high frequency among Ashkenazi Jews.

Similarity:

Belongs to the transient receptor (TC 1.A.4) family. Polycystin subfamily. MCOLN1 sub-subfamily.

SWISS:

Q9GZU1

Gene ID:

57192

Important Note:

This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.