Description
Antibody Name: | TUBA8 Antibody (PACO12984) |
Antibody SKU: | PACO12984 |
Size: | 50ul |
Host Species: | Rabbit |
Tested Applications: | ELISA |
Recommended Dilutions: | |
Species Reactivity: | Human, Mouse, Rat |
Immunogen: | Human TUBA8 |
Form: | Liquid |
Storage Buffer: | PBS with 0.02% Sodium Azide, 50% Glycerol, pH 7.320°C, Avoid freeze / thaw cycles. |
Purification Method: | Antigen Affinity purified |
Clonality: | Polyclonal |
Isotype: | IgG |
Conjugate: | Non-conjugated |
Synonyms: | 449aa,50kd; |
UniProt Protein Function: | TUBA8: Tubulin is the major constituent of microtubules. It binds two moles of GTP, one at an exchangeable site on the beta chain and one at a non-exchangeable site on the alpha-chain. Defects in TUBA8 are the cause of polymicrogyria with optic nerve hypoplasia (PMGONH). It is a disease characterized by extensive polymicrogyria, optic nerve hypoplasia, severe developmental delay, hypotonia, seizures, a dysplastic or absent corpus callosum and colpocephaly. Polymicrogyria is a malformation of the cortex in which the brain surface is irregular and characterized by an excessive number of small gyri with abnormal lamination. Belongs to the tubulin family. 2 isoforms of the human protein are produced by alternative splicing.Protein type: Cytoskeletal; Motility/polarity/chemotaxisChromosomal Location of Human Ortholog: 22q11.21Disease: Polymicrogyria With Optic Nerve Hypoplasia |
UniProt Protein Details: | |
NCBI Summary: | The protein encoded by this gene is a bifunctional enzyme and is one of the four enzymes of the peroxisomal beta-oxidation pathway. The N-terminal region of the encoded protein contains enoyl-CoA hydratase activity while the C-terminal region contains 3-hydroxyacyl-CoA dehydrogenase activity. Defects in this gene are a cause of peroxisomal disorders such as Zellweger syndrome. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009] |
UniProt Code: | Q9NY65 |
NCBI GenInfo Identifier: | 261878539 |
NCBI Gene ID: | 1962 |
NCBI Accession: | NP_001159887.1 |
UniProt Secondary Accession: | Q9NY65 |
UniProt Related Accession: | Q9NY65,Q08426 |
Molecular Weight: | |
NCBI Full Name: | peroxisomal bifunctional enzyme isoform 2 |
NCBI Synonym Full Names: | enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase |
NCBI Official Symbol: | EHHADH |
NCBI Official Synonym Symbols: | LBP; ECHD; LBFP; PBFE; FRTS3; L-PBE |
NCBI Protein Information: | peroxisomal bifunctional enzyme |
UniProt Protein Name: | Tubulin alpha-8 chain |
UniProt Synonym Protein Names: | Alpha-tubulin 8; Tubulin alpha chain-like 2 |
Protein Family: | |
UniProt Gene Name: | TUBA8 |
UniProt Entry Name: |