Signal Transduction Antibodies 2

Anti-OPA3 Antibody (CAB4995)

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SKU:
CAB4995
Product Type:
Antibody
Antibody Type:
Polyclonal Antibody
Reactivity:
Human
Reactivity:
Mouse
Reactivity:
Rat
Host Species:
Rabbit
Isotype:
IgG
Synonyms:
OPA3
Synonyms:
MGA3

Description

Product Name:OPA3 Rabbit pAb
Product Code:CAB4995
Size:20uL, 50uL, 100uL
Synonyms:OPA3, MGA3
Applications:WB
Reactivity:Human, Mouse, Rat
Host Species:Rabbit
Immunogen:Recombinant fusion protein containing a sequence corresponding to amino acids 25-179 of human OPA3 (NP_079412.1).
Applications:WB
Recommended Dilutions:WB 1:200 - 1:1000
Reactivity:Human, Mouse, Rat
Positive Samples:HeLa, Mouse eye, Rat eye
Immunogen:Recombinant fusion protein containing a sequence corresponding to amino acids 25-179 of human OPA3 (NP_079412.1).
Purification Method:Affinity purification
Storage:Store at -20°C. Avoid freeze / thaw cycles. Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3.
Isotype:IgG
Sequence:NRIK EAAR RSEF FKTY ICLP PAQL YHWV EMRT KMRI MGFR GTVI KPLN EEAA AELG AELL GEAT IFIV GGGC LVLE YWRH QAQQ RHKE EEQR AAWN ALRD EVGH LALA LEAL QAQV QAAP PQGA LEEL RTEL QEVR AQLC NPGR SASH AVPA SKK
Gene ID:80207
Uniprot:Q9H6K4
Cellular Location:Mitochondrion
Calculated MW:19kDa/20kDa
Observed MW:17kDa
UniProt Protein Function:OPA3: May play some role in mitochondrial processes. Defects in OPA3 are the cause of 3-methylglutaconic aciduria type 3 (MGA3); also known as optic atrophy plus syndrome or Costeff optic atrophy syndrome. MGA3 is an autosomal recessive neuro-ophthalmologic syndrome consisting of early-onset bilateral optic atrophy, spasticity, extrapyramidal dysfunction, and cognitive deficit. Urinary excretion of 3- methylglutaconic acid and 3-methylglutaric acid is increased. MGA3 can be distinguished from MGA1 by the absence of increase of 3- hydroxyisovaleric acid levels. Defects in OPA3 are the cause of optic atrophy type 3 (OPA3); also known as autosomal dominant optic atrophy and cataract (ADOAC) or cataract, optic atrophy and neurologic disorder. Hereditary optic atrophy form a heterogeneous group of disorders. The autosomal dominant forms are characterized by an insidious onset of visual impairment in early childhood with moderate to severe loss of visual acuity, temporal optic disk pallor, color vision deficits and centrocecal scotoma of variable density. Belongs to the OPA3 family. 2 isoforms of the human protein are produced by alternative splicing.
UniProt Protein Details:

Chromosomal Location of Human Ortholog: 19q13.32

Cellular Component: mitochondrion

Biological Process: regulation of lipid metabolic process; visual perception; neuromuscular process; response to stimulus; growth

Disease: Optic Atrophy 3, Autosomal Dominant; 3-methylglutaconic Aciduria, Type Iii

NCBI Summary:The mouse ortholog of this protein co-purifies with the mitochondrial inner membrane. Mutations in this gene have been shown to result in 3-methylglutaconic aciduria type III and autosomal dominant optic atrophy and cataract. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]
UniProt Code:Q9H6K4
NCBI GenInfo Identifier:20139177
NCBI Gene ID:80207
NCBI Accession:Q9H6K4.1
UniProt Secondary Accession:Q9H6K4,Q6P384, Q8N784,
UniProt Related Accession:Q9H6K4
Molecular Weight:179
NCBI Full Name:Optic atrophy 3 protein
NCBI Synonym Full Names:optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)
NCBI Official Symbol:OPA3  
NCBI Official Synonym Symbols:MGA3  
NCBI Protein Information:optic atrophy 3 protein; Optic atrophy 3 (Iraqi-Jewish 'optic atrophy plus')
UniProt Protein Name:Optic atrophy 3 protein
Protein Family:OPA3-like protein
UniProt Gene Name:OPA3  
UniProt Entry Name:OPA3_HUMAN
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