background:
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.
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
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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