Anti-ELOVL4 Antibody (CAB3639)
- SKU:
- CAB3639
- Product type:
- Antibody
- Reactivity:
- Human
- Mouse
- Rat
- Host Species:
- Rabbit
- Isotype:
- IgG
- Research Area:
- Metabolism
Frequently bought together:
Description
Antibody Name: | Anti-ELOVL4 Antibody |
Antibody SKU: | CAB3639 |
Antibody Size: | 20uL, 50uL, 100uL |
Application: | WB IF |
Reactivity: | Human, Mouse, Rat |
Host Species: | Rabbit |
Immunogen: | A synthetic peptide corresponding to a sequence within amino acids 1-100 of human ELOVL4 (NP_073563.1). |
Application: | WB IF |
Recommended Dilution: | WB 1:500 - 1:2000 IF 1:50 - 1:200 |
Reactivity: | Human, Mouse, Rat |
Positive Samples: | U-87MG, HT-29, OVCAR3, A-431, HeLa |
Immunogen: | A synthetic peptide corresponding to a sequence within amino acids 1-100 of human ELOVL4 (NP_073563.1). |
Purification Method: | Affinity purification |
Storage Buffer: | Store at -20°C. Avoid freeze / thaw cycles. Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3. |
Isotype: | IgG |
Sequence: | MGLL DSEP GSVL NVVS TALN DTVE FYRW TWSI ADKR VENW PLMQ SPWP TLSI STLY LLFV WLGP KWMK DREP FQMR LVLI IYNF GMVL LNLF IFRE LFMG |
Gene ID: | 6785 |
Uniprot: | Q9GZR5 |
Cellular Location: | Endoplasmic reticulum membrane, Multi-pass membrane protein |
Calculated MW: | 36kDa |
Observed MW: | 37kDa |
Synonyms: | ELOVL4, ADMD, CT118, ISQMR, SCA34, STGD2, STGD3 |
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. |
UniProt Protein Function: | 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. |
UniProt Protein Details: | Protein type:Cancer Testis Antigen (CTA); Membrane protein, multi-pass; Endoplasmic reticulum; EC 2.3.1.199; Membrane protein, integral Chromosomal Location of Human Ortholog: 6q14 Cellular Component: endoplasmic reticulum; integral to endoplasmic reticulum membrane Molecular Function:transferase activity; protein binding; G-protein coupled photoreceptor activity Biological Process: very-long-chain fatty acid biosynthetic process; triacylglycerol biosynthetic process; cellular lipid metabolic process; fatty acid elongation, saturated fatty acid; fatty acid biosynthetic process; detection of visible light Disease: Spinocerebellar Ataxia 34 |
NCBI Summary: | 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 Code: | Q9GZR5 |
NCBI GenInfo Identifier: | 20137966 |
NCBI Gene ID: | 6785 |
NCBI Accession: | Q9GZR5.1 |
UniProt Secondary Accession: | Q9GZR5,Q5TCS2, Q86YJ1, Q9H139, B2R6B5, |
UniProt Related Accession: | Q9GZR5 |
Molecular Weight: | 37kDa |
NCBI Full Name: | Elongation of very long chain fatty acids protein 4 |
NCBI 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; ELOVL FA elongase 4; cancer/testis antigen 118; 3-keto acyl-CoA synthase ELOVL4; very-long-chain 3-oxoacyl-CoA synthase 4; elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 4 |
UniProt Protein Name: | Elongation of very long chain fatty acids protein 4 |
UniProt Synonym Protein Names: | 3-keto acyl-CoA synthase ELOVL4; ELOVL fatty acid elongase 4; ELOVL FA elongase 4; Very-long-chain 3-oxoacyl-CoA synthase 4 |
Protein Family: | Elongation of very long chain fatty acids protein |
UniProt Gene Name: | ELOVL4 |
UniProt Entry Name: | ELOV4_HUMAN |