Name: Anti-MATN3 Antibody (CAB15072)
Brand: Cell Biology Antibodies 5
SKU: CAB15072
Availability: OutOfStock

Antibody Name:	Anti-MATN3 Antibody
Antibody SKU:	CAB15072
Antibody Size:	20uL, 50uL, 100uL
Application:	IF
Reactivity:	Human
Host Species:	Rabbit
Immunogen:	Recombinant fusion protein containing a sequence corresponding to amino acids 277-486 of human MATN3 (NP_002372.1).

Application:	IF
Recommended Dilution:	IF 1:50 - 1:200
Reactivity:	Human
Positive Samples:

Immunogen:	Recombinant fusion protein containing a sequence corresponding to amino acids 277-486 of human MATN3 (NP_002372.1).
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:	HVCI SDGE GKHH CECS QGYT LNAD KKTC SALD RCAL NTHG CEHI CVND RSGS YHCE CYEG YTLN EDRK TCSA QDKC ALGT HGCQ HICV NDRT GSHH CECY EGYT LNAD KKTC SVRD KCAL GSHG CQHI CVSD GAAS YHCD CYPG YTLN EDKK TCSA TEEA RRLV STED ACGC EATL AFQD KVSS YLQR LNTK LDDI LEKL KINE YGQI HR
Gene ID:	4148
Uniprot:	O15232
Cellular Location:	Secreted
Calculated MW:	48kDa/52kDa
Observed MW:

Synonyms:

MATN3, DIPOA, EDM5, HOA, OADIP, OS2

Background:

This gene encodes a member of von Willebrand factor A domain containing protein family. This family of proteins is thought to be involved in the formation of filamentous networks in the extracellular matrices of various tissues. This protein contains two von Willebrand factor A domains; it is present in the cartilage extracellular matrix and has a role in the development and homeostasis of cartilage and bone. Mutations in this gene result in multiple epiphyseal dysplasia.

UniProt Protein Function:	MATN3: Major component of the extracellular matrix of cartilage and may play a role in the formation of extracellular filamentous networks. Defects in MATN3 are the cause of multiple epiphyseal dysplasia type 5 (EDM5). EDM is a generalized skeletal dysplasia associated with significant morbidity. Joint pain, joint deformity, waddling gait, and short stature are the main clinical signs and symptoms. EDM is broadly categorized into the more severe Fairbank and the milder Ribbing types. EDM5 is relatively mild and clinically variable. It is primarily characterized by delayed and irregular ossification of the epiphyses and early-onset osteoarthritis. Defects in MATN3 are the cause of spondyloepimetaphyseal dysplasia MATN3-related (SEMD-MATN3). A bone disease characterized by disproportionate early-onset dwarfism, bowing of the lower limbs, lumbar lordosis and normal hands. Skeletal abnormalities include short, wide and stocky long bones with severe epiphyseal and metaphyseal changes, hypoplastic iliac bones and flat, ovoid vertebral bodies. Genetic variations in MATN3 are associated with susceptibility to osteoarthritis type 2 (OS2); also called osteoarthritis of distal interphalangeal joints (OADIP) or hand osteoarthritis (HOA). Osteoarthritis is a degenerative disease of the joints characterized by degradation of the hyaline articular cartilage and remodeling of the subchondral bone with sclerosis. Clinical symptoms include pain and joint stiffness often leading to significant disability and joint replacement. In the hand, osteoarthritis can develop in the distal interphalangeal and the first carpometacarpal (base of thumb) and proximal interphalangeal joints. Patients with osteoarthritis may have one, a few, or all of these sites affected.
UniProt Protein Details:	Protein type:Secreted; Secreted, signal peptide Chromosomal Location of Human Ortholog: 2p24-p23 Cellular Component: proteinaceous extracellular matrix; extracellular region Molecular Function:protein binding; extracellular matrix structural constituent Biological Process: extracellular matrix organization and biogenesis; skeletal development Disease: Osteoarthritis Susceptibility 2; Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related; Epiphyseal Dysplasia, Multiple, 5
NCBI Summary:	This gene encodes a member of von Willebrand factor A domain containing protein family. This family of proteins is thought to be involved in the formation of filamentous networks in the extracellular matrices of various tissues. This protein contains two von Willebrand factor A domains; it is present in the cartilage extracellular matrix and has a role in the development and homeostasis of cartilage and bone. Mutations in this gene result in multiple epiphyseal dysplasia. [provided by RefSeq]
UniProt Code:	O15232
NCBI GenInfo Identifier:	11321565
NCBI Gene ID:	4148
NCBI Accession:	NP_002372.1
UniProt Secondary Accession:	O15232,Q4ZG02,
UniProt Related Accession:	O15232
Molecular Weight:	52,817 Da
NCBI Full Name:	matrilin-3
NCBI Synonym Full Names:	matrilin 3
NCBI Official Symbol:	MATN3
NCBI Official Synonym Symbols:	HOA; OS2; EDM5; DIPOA; OADIP
NCBI Protein Information:	matrilin-3; OTTHUMP00000200547
UniProt Protein Name:	Matrilin-3
Protein Family:	Matrilin
UniProt Gene Name:	MATN3
UniProt Entry Name:	MATN3_HUMAN