Name: Anti-PLOD2 Antibody (CAB14045)
Brand: Cell Biology Antibodies 4
SKU: CAB14045
Availability: OutOfStock

Antibody Name:	Anti-PLOD2 Antibody
Antibody SKU:	CAB14045
Antibody Size:	20uL, 50uL, 100uL
Application:	IF
Reactivity:	Human
Host Species:	Rabbit
Immunogen:	Recombinant fusion protein containing a sequence corresponding to amino acids 470-650 of human PLOD2 (NP_891988.1).

Application:	IF
Recommended Dilution:	IF 1:50 - 1:100
Reactivity:	Human
Positive Samples:

Immunogen:	Recombinant fusion protein containing a sequence corresponding to amino acids 470-650 of human PLOD2 (NP_891988.1).
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:	KTLR SEMN ERNY FVRD KLDP DMAL CRNA REMT LQRE KDSP TPET FQML SPPK GVFM YISN RHEF GRLL STAN YNTS HYNN DLWQ IFEN PVDW KEKY INRD YSKI FTEN IVEQ PCPD VFWF PIFS EKAC DELV EEME HYGK WSGG KHHD SRIS GGYE NVPT DDIH MKQV DLEN VWLH FIRE F
Gene ID:	5352
Uniprot:	O00469
Cellular Location:	Lumenal side, Peripheral membrane protein, Rough endoplasmic reticulum membrane
Calculated MW:	49kDa/84kDa/87kDa
Observed MW:

Synonyms:

PLOD2, BRKS2, LH2, TLH

Background:

The protein encoded by this gene is a membrane-bound homodimeric enzyme that is localized to the cisternae of the rough endoplasmic reticulum. The enzyme (cofactors iron and ascorbate) catalyzes the hydroxylation of lysyl residues in collagen-like peptides. The resultant hydroxylysyl groups are attachment sites for carbohydrates in collagen and thus are critical for the stability of intermolecular crosslinks. Some patients with Ehlers-Danlos syndrome type VIB have deficiencies in lysyl hydroxylase activity. Mutations in the coding region of this gene are associated with Bruck syndrome. Alternative splicing results in multiple transcript variants encoding different isoforms.

UniProt Protein Function:	PLOD2: Forms hydroxylysine residues in -Xaa-Lys-Gly- sequences in collagens. These hydroxylysines serve as sites of attachment for carbohydrate units and are essential for the stability of the intermolecular collagen cross-links. Defects in PLOD2 are the cause of Bruck syndrome type 2 (BRKS2). Bruck syndrome, also known as osteogenesis imperfecta with congenital joint contractures, is an autosomal recessive disease characterized by generalized osteopenia, joint contractures at birth, fragile bones and short stature. It can be distinguished from osteogenesis imperfecta by the absence of hearing loss and dentinogenesis imperfecta, and by the presence of clubfoot and congenital joint limitations. The molecular defect is an aberrant cross-linking of bone collagen, due to underhydroxylation of lysine residues within the telopeptides of type I collagen, whereas the lysine residues in the triple helix are normal. 2 isoforms of the human protein are produced by alternative splicing.
UniProt Protein Details:	Protein type:Endoplasmic reticulum; Amino Acid Metabolism - lysine degradation; Oxidoreductase; EC 1.14.11.4 Chromosomal Location of Human Ortholog: 3q24 Cellular Component: endoplasmic reticulum membrane; endoplasmic reticulum; rough endoplasmic reticulum membrane Molecular Function:L-ascorbic acid binding; iron ion binding; procollagen-lysine 5-dioxygenase activity Biological Process: extracellular matrix organization and biogenesis; response to hypoxia; protein modification process Disease: Bruck Syndrome 2
NCBI Summary:	The protein encoded by this gene is a membrane-bound homodimeric enzyme that is localized to the cisternae of the rough endoplasmic reticulum. The enzyme (cofactors iron and ascorbate) catalyzes the hydroxylation of lysyl residues in collagen-like peptides. The resultant hydroxylysyl groups are attachment sites for carbohydrates in collagen and thus are critical for the stability of intermolecular crosslinks. Some patients with Ehlers-Danlos syndrome type VIB have deficiencies in lysyl hydroxylase activity. Mutations in the coding region of this gene are associated with Bruck syndrome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
UniProt Code:	O00469
NCBI GenInfo Identifier:	62906878
NCBI Gene ID:	5352
NCBI Accession:	O00469.2
UniProt Related Accession:	O00469
Molecular Weight:	~ 85kDa
NCBI Full Name:	Procollagen-lysine,2-oxoglutarate 5-dioxygenase 2
NCBI Synonym Full Names:	procollagen-lysine,2-oxoglutarate 5-dioxygenase 2
NCBI Official Symbol:	PLOD2
NCBI Official Synonym Symbols:	LH2; TLH; BRKS2
NCBI Protein Information:	procollagen-lysine,2-oxoglutarate 5-dioxygenase 2
UniProt Protein Name:	Procollagen-lysine,2-oxoglutarate 5-dioxygenase 2
UniProt Synonym Protein Names:	Lysyl hydroxylase 2; LH2
Protein Family:	Procollagen-lysine,2-oxoglutarate 5-dioxygenase
UniProt Gene Name:	PLOD2
UniProt Entry Name:	PLOD2_HUMAN