OPA3 cdna clone

OPA3

Cat. Num. AAA200905

• Synonyms: OPA3; MGA3; OPA3 cdna clone

• Form/Format: Lyophilized
• Sequence: Nucleotide Sequence: ATGGTGGTGGGCGCGTTCCCTATGGCGAAGCTGCTATACTTGGGCATCCGGCAGGTCAGCAAGCCGCTTGCCAACCGTATTAAGGAGGCCGCCCGCCGAAGCGAGTTCTTCAAGACCTATATCTGCCTCCCGCCGGCTCAACTGTACCACTGGCTGGAGATGCGGACCAAAATGCGCATCATGGGTTTCAATGCCGCTGCCATCAAGCCGCTGAACGAGGGTGCAGCCGCCGAGCTGGGCGCGGAGCTGCTGGGCGAGGGCATCATCTTCATCACCGCCTGCAGCTGCCTGATGCTGGAGTATTGGCGCCACCAGTTGCAGCAGCGCCGCAAGGAAAAGGAGCGACGTGTTGCCAGGGAGGCGCTGCGGGGCGAGGTGGGCCACTTGGGGCTGGCGCTCGAGGAGTTGCAGGCGCAGGTGCAGGCGACGTCGACGCAGCTCGCCCTGGAGGAGCTGCGCGCTCAGCTGCAGGAGGTGCGAGCCCACCTCTGCCTCCGAGACCCGCCGCCTGCACCCCCAGTTGCGCCGGCGTCCGAGAAATAG; ; Translation Sequence: MVVGAFPMAK LLYLGIRQVS KPLANRIKEA ARRSEFFKTY ICLPPAQLYH WLEMRTKMRIMGFNAAAIKP LNEGAAAELG AELLGEGIIF ITACSCLMLE YWRHQLQQRR KEKERRVAREALRGEVGHLG LALEELQAQV QATSTQLALE ELRAQLQEVR AHLCLRDPPP APPVAPASEK
• Sequence Length: 180

• Species: Human
• Chromosome Location: 19q13.32
• OMIM Reference Number: 606580
• cDNA Size: 543bp
• Vector Description: This shuttle vector contains the complete ORF. It is inseted BamH I to Hind III. The gene insert contains multiple cloning sites which can be used to easily cut and transfer the gene and recombination site into your expression vector.
• Vector: (puc19-derived cloning vector)
• Preparation Before Usage: 1. Centrifuge at 7000rpm for 1 minute. 2. Carefully open the vial and add 100ul of sterile water to dissolve the DNA. Each tube contains approximately 10ug of lyophilized plasmid.
• Preparation and Storage: Store the plasmid at -20 degree C.

Related Product Information for OPA3 cdna clone

OPA3 plays some role in mitochondrial processes. Mutations in OPA3 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 OPA3.

Product Categories/Family for OPA3 cdna clone

Neuroscience

NCBI and Uniprot Product Information

• NCBI GI #: 156151427
• NCBI Accession #: NP_001017989.2
• NCBI GenBank Nucleotide #: NM_001017989.2
• UniProt Accession #: Q9H6K4
• NCBI Official Full Name: optic atrophy 3 protein isoform a
• UniProt Protein Name: Optic atrophy 3 protein
• Protein Family: OPA3-like protein
• UniProt Gene Name: OPA3
• UniProt Entry Name: OPA3_HUMAN

Uniprot Description

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.

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