产品名称
HCCS Rabbit Polyclonal Antibody
别名
HCCS; CCHL; Cytochrome c-type heme lyase; CCHL; Holocytochrome c-type synthase
蛋白名称
Cytochrome c-type heme lyase
存储缓冲液
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% New type preservative N.
Human Gene Link
http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=3052
Human Swissprot No.
P53701
Human Swissprot Link
http://www.uniprot.org/uniprotkb/P53701/entry
Mouse Gene Link
http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=15159
Mouse Swissprot No.
P53702
Mouse Swissprot Link
http://www.uniprot.org/uniprot/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.
稀释度
WB 1:500 - 1:2000. IHC 1:100 - 1:300. IF 1:200 - 1:1000. ELISA: 1:20000. Not yet tested in other applications.
宿主
Polyclonal, Rabbit,IgG
背景介绍
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],
细胞定位
Mitochondrion inner membrane . Membrane ; Lipid-anchor .
信号通路
Porphyrin and chlorophyll metabolism;
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, sclerocornea, chorioretinal abnormalities, infantile seizures, congenital heart defect, mental retardation, and diaphragmatic hernia.,function:Links covalently the heme group to the apoprotein of cytochrome c.,similarity:Belongs to the cytochrome c-type heme lyase family.,similarity:Contains 2 HRM (heme regulatory motif) repeats.,
纯化
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
