• 靶点：
• HCCS

• 简介：
• >>Porphyrin metabolism;>>Metabolic pathways

• 基因名称：
• HCCS

• 蛋白名称：
• Cytochrome c-type heme lyase

• Human Gene Id：
• 3052

• Human Swiss Prot No：
• P53701

• Mouse Gene Id：
• 15159

• Mouse Swiss Prot No：
• P53702

• 免疫原：
• The antiserum was produced against synthesized peptide derived from human Cytochrome c-type Heme Lyase. AA range:81-130

• 特异性：
• HCCS Polyclonal Antibody detects endogenous levels of HCCS protein.

• 组成：
• Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.

• 来源：
• Polyclonal, Rabbit,IgG

• 稀释：
• WB 1:500 - 1:2000. IHC 1:100 - 1:300. IF 1:200 - 1:1000. ELISA: 1:20000. Not yet tested in other applications.

• 纯化工艺：
• The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.

• 浓度：
• 1 mg/ml

• 储存：
• -15°C to -25°C/1 year(Do not lower than -25°C)

• 其他名称：
• HCCS;CCHL;Cytochrome c-type heme lyase;CCHL;Holocytochrome c-type synthase

• 实测条带：
• 31kD

• 背景：
• holocytochrome c synthase(HCCS) Homo sapiens The protein encoded by this gene is an enzyme that covalently links a heme group to the apoprotein of cytochrome c. Defects in this gene are a cause of microphthalmia syndromic type 7 (MCOPS7). Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jan 2010],

• 功能：
• catalytic activity:Holocytochrome c = apocytochrome c + heme.,disease:Defects in HCCS are a cause of microphthalmia syndromic type 7 (MCOPS7) [MIM:309801]; also known as microphthalmia with linear skin defects (MLS) or MIDAS syndrome. Microphthalmia is a clinically heterogeneous disorder of eye formation, ranging from small size of a single eye TO complete bilateral absence of ocular tissues (anophthalmia). In many cases, microphthalmia/anophthalmia occurs in association with syndromes that include non-ocular abnormalities. MCOPS7 is a disorder characterized by unilateral or bilateral microphthalmia, linear skin defects in affected females, and in utero lethality for males. Skin defects are limited to the face and neck, consisting of areas of aplastic skin that heal with age to form hyperpigmented areas. Additional features in female patients include agenesis of the corpus callosum, scle

• 细胞定位：
• Mitochondrion inner membrane . Membrane ; Lipid-anchor .

• 组织表达：
• Brain,Liver,Ovary,

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