catalog number :
MBS7043915
products full name :
HCCS Antibody
products short name :
[HCCS]
products name syn :
[Cytochrome c-type heme lyase, (CCHL) (EC 4.4.1.17); Holocytochrome c-type synthase; HCCS; CCHL]
other names :
[cytochrome c-type heme lyase; Cytochrome c-type heme lyase; cytochrome c-type heme lyase; holocytochrome c synthase; Holocytochrome c-type synthase]
products gene name :
[HCCS]
other gene names :
[HCCS; HCCS; MLS; CCHL; MCOPS7; LSDMCA1; CCHL; CCHL]
uniprot entry name :
CCHL_HUMAN
reactivity :
Human, Mouse
purity :
Antigen Affinity Purified
storage stability :
Upon receipt, aliquot and store at -20 degree C or -80 degree C. Avoid repeated freeze.
tested application :
ELISA (EIA), Western Blot (WB)
app notes :
Recommended dilution: WB:1:1000-1:5000
image1 heading :
Western Blot (WB)
other info1 :
Species: Human. Immunogen: Recombinant human Cytochrome c-type heme lyase protein (1-268AA)
other info2 :
Conjugate: Non-conjugated. Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3. Species: Human. Research Area: Cardiovascular. Santa Cruz Alternative: Potential replacement for Santa Cruz Biotechnology antibody catalog# sc-168060
products description :
Links covalently the heme group to the apoprotein of cytochrome c.
ncbi acc num :
NP_001116080.1
ncbi gb acc num :
NM_001122608.2
ncbi pathways :
Porphyrin And Chlorophyll Metabolism Pathway (83021); Porphyrin And Chlorophyll Metabolism Pathway (407)
ncbi summary :
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]
uniprot summary :
HCCS: Links covalently the heme group to the apoprotein of cytochrome c. Defects in HCCS are a cause of microphthalmia syndromic type 7 (MCOPS7); 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. Belongs to the cytochrome c-type heme lyase family. Protein type: Cofactor and Vitamin Metabolism - porphyrin and chlorophyll; EC 4.4.1.17; Lyase; Mitochondrial. Chromosomal Location of Human Ortholog: Xp22.3. Cellular Component: mitochondrion. Biological Process: organ morphogenesis. Disease: Microphthalmia, Syndromic 7