Anti-HCCS Antibody (CAB7490)

Antibody Name:	Anti-HCCS Antibody
Antibody SKU:	CAB7490
Antibody Size:	20uL, 50uL, 100uL
Application:	WB IF
Reactivity:	Human, Mouse, Rat
Host Species:	Rabbit
Immunogen:	Recombinant fusion protein containing a sequence corresponding to amino acids 1-268 of human HCCS (NP_005324.3).

Application:	WB IF
Recommended Dilution:	WB 1:500 - 1:2000 IF 1:50 - 1:100
Reactivity:	Human, Mouse, Rat
Positive Samples:	SKOV3, MCF7, HeLa, HepG2, SW480, Mouse small intestine, Mouse kidney

Immunogen:	Recombinant fusion protein containing a sequence corresponding to amino acids 1-268 of human HCCS (NP_005324.3).
Purification Method:	Affinity purification
Storage Buffer:	Store at -20'C. Avoid freeze / thaw cycles. Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3.
Isotype:	IgG
Sequence:	MGLS PSAP AVAV QASN ASAS PPSG CPMH EGKM KGCP VNTE PSGP TCEK KTYS VPAH QERA YEYV ECPI RGTA AENK ENLD PSNL MPPP NQTP APDQ PFAL STVR EESS IPRA DSEK KWVY PSEQ MFWN AMLK KGWK WKDE DISQ KDMY NIIR IHNQ NNEQ AWKE ILKW EALH AAEC PCGP SLIR FGGK AKEY SPRA RIRS WMGY ELPF DRHD WIIN RCGT EVRY VIDY YDGG EVNK DYQF TILD VRPA LDSL SAVW DRMK VAWW RWTS
Gene ID:	3052
Uniprot:	P53701
Cellular Location:	Lipid-anchor, Membrane, Mitochondrion inner membrane
Calculated MW:	30kDa
Observed MW:	31kDa

Synonyms:	HCCS, CCHL, LSDMCA1, MCOPS7, MLS, LDB3
Background:	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.

UniProt Protein Function:	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.
UniProt Protein Details:	Protein type:Cofactor and Vitamin Metabolism - porphyrin and chlorophyll; Mitochondrial; EC 4.4.1.17; Lyase Chromosomal Location of Human Ortholog: Xp22.3 Cellular Component: mitochondrion; mitochondrial inner membrane Molecular Function:metal ion binding; holocytochrome-c synthase activity Biological Process: organ morphogenesis Disease: Microphthalmia, Syndromic 7
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 Code:	P53701
NCBI GenInfo Identifier:	1705694
NCBI Gene ID:	3052
NCBI Accession:	P53701.1
UniProt Secondary Accession:	P53701,Q502X8, B3KUS1,
UniProt Related Accession:	P53701
Molecular Weight:	Observed MW: 31kDaCalculated MW 30kDa
NCBI Full Name:	Cytochrome c-type heme lyase
NCBI Synonym Full Names:	holocytochrome c synthase
NCBI Official Symbol:	HCCS
NCBI Official Synonym Symbols:	MLS; CCHL; MCOPS7
NCBI Protein Information:	cytochrome c-type heme lyase; cytochrome c heme-lyase; holocytochrome c-type synthase; microphthalamia with linear skin defects
UniProt Protein Name:	Cytochrome c-type heme lyase
UniProt Synonym Protein Names:	Holocytochrome c-type synthase
Protein Family:	Cytochrome c-type heme lyase
UniProt Gene Name:	HCCS
UniProt Entry Name:	CCHL_HUMAN

	Western blot analysis of extracts of various cell lines, using HCCS antibody (CAB7490) at 1:1000 dilution. Secondary antibody: HRP Goat Anti-Rabbit IgG (H+L) (CABS014) at 1:10000 dilution. Lysates/proteins: 25ug per lane. Blocking buffer: 3% nonfat dry milk in TBST. Detection: ECL Basic Kit (RM00020). Exposure time: 90s.
	Immunofluorescence analysis of U-2 OS cells using HCCS Polyclonal Antibody (CAB7490) at dilution of 1:100 (40x lens). Blue: DAPI for nuclear staining.

Antibodies	ELISA Kits
HCCS Antibody (PACO00897)	Human HCCS / Holocytochrome C Synthase ELISA Kit
HCCS Antibody (PACO09684)	Human HCCS (Holocytochrome C Synthase) CLIA Kit (HUES00298)
	Human HCCS (Holocytochrome C Synthase) ELISA Kit (HUES01629)

Secondary Antibody

Anti-HRP Goat Anti-Rabbit IgG (H+L) Antibody (CABS014)