Name: Anti-SUMF1 Antibody (CAB14463)
Brand: Cell Biology Antibodies 5
SKU: CAB14463
Availability: OutOfStock

Antibody Name:	Anti-SUMF1 Antibody
Antibody SKU:	CAB14463
Antibody Size:	20uL, 50uL, 100uL
Application:	WB
Reactivity:	Mouse, Rat
Host Species:	Rabbit
Immunogen:	Recombinant fusion protein containing a sequence corresponding to amino acids 34-374 of human SUMF1 (NP_877437.2).

Application:	WB
Recommended Dilution:	WB 1:500 - 1:2000
Reactivity:	Mouse, Rat
Positive Samples:

Immunogen:	Recombinant fusion protein containing a sequence corresponding to amino acids 34-374 of human SUMF1 (NP_877437.2).
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:	SQEA GTGA GAGS LAGS CGCG TPQR PGAH GSSA AAHR YSRE ANAP GPVP GERQ LAHS KMVP IPAG VFTM GTDD PQIK QDGE APAR RVTI DAFY MDAY EVSN TEFE KFVN STGY LTEA EKFG DSFV FEGM LSEQ VKTN IQQA VAAA PWWL PVKG ANWR HPEG PDST ILHR PDHP VLHV SWND AVAY CTWA GKRL PTEA EWEY SCRG GLHN RLFP WGNK LQPK GQHY ANIW QGEF PVTN TGED GFQG TAPV DAFP PNGY GLYN IVGN AWEW TSDW WTVH HSVE ETLN PKGP PSGK DRVK KGGS YMCH RSYC YRYR CAAR SQNT PDSS ASNL GFRC AADR LPTM D
Gene ID:	285362
Uniprot:	Q8NBK3
Cellular Location:	Endoplasmic reticulum lumen
Calculated MW:	31kDa/37kDa/38kDa/40kDa/46kDa
Observed MW:	Refer to Figures

Synonyms:	SUMF1, AAPA3037, FGE, UNQ3037
Background:	This gene encodes an enzyme that catalyzes the hydrolysis of sulfate esters by oxidizing a cysteine residue in the substrate sulfatase to an active site 3-oxoalanine residue, which is also known as C-alpha-formylglycine. Mutations in this gene cause multiple sulfatase deficiency, a lysosomal storage disorder. Alternative splicing results in multiple transcript variants.

UniProt Protein Function:	SUMF1: Using molecular oxygen and an unidentified reducing agent, oxidizes a cysteine residue in the substrate sulfatase to an active site 3-oxoalanine residue, which is also called C(alpha)-formylglycine. Known substrates include GALNS, ARSA, STS and ARSE. Defects in SUMF1 are the cause of multiple sulfatase deficiency (MSD). MSD is a clinically and biochemically heterogeneous disorder caused by the simultaneous impairment of all sulfatases, due to defective post-translational modification and activation. It combines features of individual sulfatase deficiencies such as metachromatic leukodystrophy, mucopolysaccharidosis, chondrodysplasia punctata, hydrocephalus, ichthyosis, neurologic deterioration and developmental delay. Inheritance is autosomal recessive. Belongs to the sulfatase-modifying factor family. 3 isoforms of the human protein are produced by alternative splicing.
UniProt Protein Details:	Protein type:Secreted, signal peptide; EC 1.8.99.-; Endoplasmic reticulum; Secreted; Oxidoreductase Chromosomal Location of Human Ortholog: 3p26.1 Cellular Component: endoplasmic reticulum lumen Molecular Function:oxidoreductase activity Biological Process: glycosphingolipid metabolic process; post-translational protein modification Disease: Multiple Sulfatase Deficiency
NCBI Summary:	This gene encodes an enzyme that catalyzes the hydrolysis of sulfate esters by oxidizing a cysteine residue in the substrate sulfatase to an active site 3-oxoalanine residue, which is also known as C-alpha-formylglycine. Mutations in this gene cause multiple sulfatase deficiency, a lysosomal storage disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]
UniProt Code:	Q8NBK3
NCBI GenInfo Identifier:	62298562
NCBI Gene ID:	285362
NCBI Accession:	Q8NBK3.3
UniProt Secondary Accession:	Q8NBK3,Q0VAC6, Q0VAC7, Q2NL78, Q53ZE4, Q6UY39, Q96AK5 Q96DK8, B4DXK5, B7XD05, E9PGL0, G5E9B0,
UniProt Related Accession:	Q8NBK3
Molecular Weight:	38,386 Da
NCBI Full Name:	Sulfatase-modifying factor 1
NCBI Synonym Full Names:	sulfatase modifying factor 1
NCBI Official Symbol:	SUMF1
NCBI Official Synonym Symbols:	FGE; UNQ3037; AAPA3037
NCBI Protein Information:	sulfatase-modifying factor 1
UniProt Protein Name:	Sulfatase-modifying factor 1
UniProt Synonym Protein Names:	C-alpha-formylglycine-generating enzyme 1
Protein Family:	Sulfatase-modifying factor
UniProt Gene Name:	SUMF1
UniProt Entry Name:	SUMF1_HUMAN