This gene encodes a membrane-bound protein which is a member of the ELO family, proteins which participate in the biosynthesis of fatty acids. Consistent with the expression of the encoded protein in photoreceptor cells of the retina, mutations and small deletions in this gene are associated with Stargardt-like macular dystrophy (STGD3) and autosomal dominant Stargardt-like macular dystrophy (ADMD), also referred to as autosomal dominant atrophic macular degeneration. [provided by RefSeq, Jul 2008]
Function:
Acts as subunit of the RNA polymerase II elongator complex, which is a histone acetyltransferase component of the RNA polymerase II (Pol II) holoenzyme and is involved in transcriptional elongation. Elongator may play a role in chromatin remodeling and is involved in acetylation of histones H3 and probably H4.
Subcellular Location:
Cytoplasm. Nucleus.
Tissue Specificity:
Widely expressed
Similarity:
Belongs to the ELP4 family.
SWISS:
Q96EB1
Gene ID:
26610
Database links:
Entrez Gene: 26610 Human
Entrez Gene: 77766 Mouse
Entrez Gene: 100514702 Pig
Entrez Gene: 691133 Rat
Entrez Gene: 550331 Zebrafish
Omim: 606985 Human
SwissProt: Q2TSH6 Cow
SwissProt: Q96EB1 Human
SwissProt: Q9ER73 Mouse
SwissProt: Q566Y1 Zebrafish
Unigene: 175534 Human
Unigene: 33870 Mouse
Unigene: 79765 Zebrafish
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Protein: Hela(human) lysate at 40ug;
Primary: rabbit Anti-ELP4 (SL14574R) at 1:300;
Secondary: HRP conjugated Goat-Anti-rabbit IgG(SL0295G-HRP) at 1: 5000;
Predicted band size: 47 kD
Observed band size: 47 kD
Paraformaldehyde-fixed, paraffin embedded (mouse brain); Antigen retrieval by boiling in sodium citrate buffer (pH6.0) for 15min; Block endogenous peroxidase by 3% hydrogen peroxide for 20 minutes; Blocking buffer (normal goat serum) at 37°C for 30min; Antibody incubation with (ELP4) Polyclonal Antibody, Unconjugated (SL14574R) at 1:200 overnight at 4°C, followed by operating according to SP Kit(Rabbit) (sp-0023) instructionsand DAB staining.
Paraformaldehyde-fixed, paraffin embedded (mouse testis); Antigen retrieval by boiling in sodium citrate buffer (pH6.0) for 15min; Block endogenous peroxidase by 3% hydrogen peroxide for 20 minutes; Blocking buffer (normal goat serum) at 37°C for 30min; Antibody incubation with (ELP4) Polyclonal Antibody, Unconjugated (SL14574R) at 1:200 overnight at 4°C, followed by operating according to SP Kit(Rabbit) (sp-0023) instructionsand DAB staining.
Paraformaldehyde-fixed, paraffin embedded (rat brain); Antigen retrieval by boiling in sodium citrate buffer (pH6.0) for 15min; Block endogenous peroxidase by 3% hydrogen peroxide for 20 minutes; Blocking buffer (normal goat serum) at 37°C for 30min; Antibody incubation with (ELP4) Polyclonal Antibody, Unconjugated (SL14574R) at 1:200 overnight at 4°C, followed by operating according to SP Kit(Rabbit) (sp-0023) instructionsand DAB staining.
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