ELOVL4 blocking peptide

ELOVL4 Antibody (C-term) Blocking Peptide

• Gene Names: ELOVL4; ADMD; CT118; ISQMR; SCA34; STGD2; STGD3
• Synonyms: ELOVL4; ELOVL4 Antibody (C-term) Blocking Peptide; Elongation of very long chain fatty acids protein 4; 3-keto acyl-CoA synthase ELOVL4; ELOVL fatty acid elongase 4; ELOVL FA elongase 4; Very-long-chain 3-oxoacyl-CoA synthase 4; ELOVL4 blocking peptide

• Form/Format: Synthetic peptide was lyophilized with 100% acetonitrile and is supplied as a powder. Reconstitute with 0.1 ml DI water for a final concentration of 1 mg/ml.
• Sequence Length: 314

• Cellular Location: Endoplasmic reticulum membrane; Multi- pass membrane protein
• Tissue Location: Expressed in the retina and at much lower level in the brain. Ubiquitous, highest expression in thymus, followed by testis, small intestine, ovary, and prostate. Little or no expression in heart, lung, liver, or leukocates
• Preparation and Storage: Maintain refrigerated at 2-8 degree C for up to 6 months. For long term storage store at -20 degree C.

Related Product Information for ELOVL4 blocking peptide

Condensing enzyme that elongates saturated and monounsaturated very long chain fatty acids (VLCFAs). Elongates C24:0 and C26:0 acyl-CoAs. Seems to represent a photoreceptor- specific component of the fatty acid elongation system residing on the endoplasmic reticulum. May be implicated in docosahexaenoic acid (DHA) biosynthesis, which requires dietary consumption of the essential alpha-linolenic acid and a subsequent series of three elongation steps. May play a critical role in early brain and skin development.

NCBI and Uniprot Product Information

• NCBI GI #: 20137966
• NCBI GeneID: 6785
• UniProt Accession #: Q9GZR5; Q5TCS2; Q86YJ1; Q9H139; B2R6B5
• Molecular Weight: 36,829 Da
• NCBI Official Full Name: Elongation of very long chain fatty acids protein 4
• NCBI Official Synonym Full Names: ELOVL fatty acid elongase 4
• NCBI Official Symbol: ELOVL4
• NCBI Official Synonym Symbols: ADMD; CT118; ISQMR; SCA34; STGD2; STGD3
• NCBI Protein Information: elongation of very long chain fatty acids protein 4
• UniProt Protein Name: Elongation of very long chain fatty acids protein 4
• Protein Family: Elongation of very long chain fatty acids protein
• UniProt Gene Name: ELOVL4
• UniProt Synonym Gene Names: ELOVL FA elongase 4
• UniProt Entry Name: ELOV4_HUMAN

NCBI Description

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]

Uniprot Description

ELOVL4: Condensing enzyme that elongates saturated and monounsaturated very long chain fatty acids (VLCFAs). Elongates C24:0 and C26:0 acyl-CoAs. Seems to represent a photoreceptor- specific component of the fatty acid elongation system residing on the endoplasmic reticulum. May be implicated in docosahexaenoic acid (DHA) biosynthesis, which requires dietary consumption of the essential alpha-linolenic acid and a subsequent series of three elongation steps. May play a critical role in early brain and skin development. Defects in ELOVL4 are the cause of Stargardt disease type 3 (STGD3). STGD is one of the most frequent causes of macular degeneration in childhood. It is characterized by macular dystrophy with juvenile-onset, rapidly progressive course, alterations of the peripheral retina, and subretinal deposition of lipofuscin-like material. STGD3 inheritance is autosomal dominant. Defects in ELOVL4 are the cause of ichthyosis, spastic quadriplegia, and mental retardation (ISQMR). A severe autosomal recessive disorder characterized by ichthyosis apparent from birth, profound psychomotor retardation with essentially no development, spastic quadriplegia, and seizures. Belongs to the ELO family.

Protein type: Cancer Testis Antigen (CTA); EC 2.3.1.199; Endoplasmic reticulum; Membrane protein, multi-pass; Membrane protein, integral

Chromosomal Location of Human Ortholog: 6q14

Cellular Component: endoplasmic reticulum; integral to endoplasmic reticulum membrane

Molecular Function: protein binding

Biological Process: fatty acid elongation, saturated fatty acid; very-long-chain fatty acid biosynthetic process

Disease: Spinocerebellar Ataxia 34