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产品信息
H00057192-B01P
产品规格
种属反应
Human
宿主/亚型
Mouse
/ IgG
分类
Polyclonal
类型
Antibody
抗原
MCOLN1 (NP_065394.1, 1 a.a. approximately 580 a.a) full-length human protein.
偶联物
形式
Liquid
浓度
0.5 mg/mL
纯化类型
Protein A
保存液
PBS, pH 7.4
内含物
no preservative
保存条件
-20° C, Avoid Freeze/Thaw Cycles
运输条件
Ambient (domestic); Wet ice (international)
产品详细信息
Product may be used with Western Blot (Transfected lysate).
The Isotype of this product is composed of an IgG Mixture.
Immunogen sequence: MTAPAGPRGS ETERLLTPNP GYGTQAGPSP APPTPPEEED LRRRLKYFFM SPCDKFRAKG RKPCKLMLQV VKILVVTVQL ILFGLSNQLA VTFREENTIA FRHLFLLGYS DGADDTFAAY TREQLYQAIF HAVDQYLALP DVSLGRYAYV RGGGDPWTNG SGLALCQRYY HRGHVDPAND TFDIDPMVVT DCIQVDPPER PPPPPSDDLT LLESSSSYKN LTLKFHKLVN VTIHFRLKTI NLQSLINNEI PDCYTFSVLI TFDNKAHSGR IPISLETQAH IQECKHPSVF QHGDNSFRLL FDVVVILTCS LSFLLCARSL LRGFLLQNEF VGFMWRQRGR VISLWERLEF VNGWYILLVT SDVLTISGTI MKIGIEAKNL ASYDVCSILL GTSTLLVWVG VIRYLTFFHN YNILIATLRV ALPSVMRFCC CVAVIYLGYC FCGWIVLGPY HVKFRSLSMV SECLFSLING DDMFVTFAAM QAQQGRSSLV WLFSQLYLYS FISLFIYMVL SLFIALITGA YDTIKHPGGA GAEESELQAY IAQCQDSPTS GKFRRGSGSA CSLLCCCGRD PSEEHSLLVN
靶标信息
Defects in Mucolipin-1 are the cause of mucolipidosis type IV (MLIV), 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.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
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生物信息学
蛋白别名: MCLN1; MCOLN1 mucolipin 1; MG-2; MGC7172; ML1; Mucolipidin; mucolipidosis type IV protein; Mucolipin-1; Transient receptor potential channel mucolipin 1; TRPML1
基因别名: MCOLN1; MG-2; ML4; MLIV; MST080; MSTP080; TRP-ML1; TRPM-L1; TRPML1
UniProt ID: (Human) Q9GZU1
Entrez Gene ID: (Human) 57192
