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Product Name FAHD1 Chinese Name FAHD1蛋白抗体 Alias Acylpyruvase FAHD1; C16orf36; Chromosome 16 open reading frame 36; DKFZP566J2046; FAHD1; FAHD1_HUMAN; Fumarylacetoacetate hydrolase domain containing protein 1; Fumarylacetoacetate hydrolase domain-containing protein 1; MGC74876; mitochondrial; YISK like; YISK like/RJD15; YisK-like protein; YISKL. literatures Specific References (1) | SL13132R has been referenced in 1 publications.[IF=6.814] Guo-Jian Jiang. et al. Ultraviolet B irradiation induces senescence of human corneal endothelial cells in vitro by DNA damage response and oxidative stress. J PHOTOCH PHOTOBIO B. 2022 Oct;235:112568 WB ; Human.Research Area Tumour Cell biology Neurobiology Mitochondrion Immunogen Species Rabbit Clonality Polyclonal React Species (predicted: Human, Mouse, Rat, Chicken, Dog, Pig, Cow, Horse, Sheep, ) Applications WB=1:500-2000 ELISA=1:5000-10000 IHC-P=1:100-500 IHC-F=1:100-500 ICC=1:100-500 IF=1:100-500 (Paraffin sections need antigen repair)
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.Theoretical molecular weight 22kDa Cellular localization cytoplasmic Mitochondrion Form Liquid Concentration 1mg/ml immunogen KLH conjugated synthetic peptide derived from human FAHD1: 101-200/224 Lsotype IgG Purification affinity purified by Protein A Buffer Solution 0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol. Storage Shipped at 4℃. Store at -20 °C for one year. Avoid repeated freeze/thaw cycles. Attention This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications. PubMed PubMed Product Detail FAHD1 is a 224 amino acid protein belonging to the FAH family. Present as a homodimer, FAHD1 is thought to have hydrolase activity and uses magnesium and calcium as cofactors. The gene that encodes FAHD1 maps to human chromosome 16, which encodes over 900 genes in approximately 90 million base pairs, making up nearly 3% of human cellular DNA. The GAN gene is located on chromosome 16 and, with mutation, may lead to giant axonal neuropathy, a nervous system disorder characterized by increasing malfunction with growth. The rare disorder Rubinstein-Taybi syndrome is also associated with chromosome 16, though through the CREBBP gene which encodes a critical CREB binding protein. Signs of Rubinstein-Taybi include mental retardation and predisposition to tumor growth and white blood cell neoplasias. Crohn's disease is a gastrointestinal inflammatory condition associated with chromosome 16 through the NOD2 gene. An association with systemic lupus erythematosis and a number of other autoimmune disorders with the pericentromeric region of chromosome 16 has led to the identification of SLC5A11 as a potential autoimmune modifier.
Function:
Probable mitochondrial acylpyruvase which is able to hydrolyze acetylpyruvate and fumarylpyruvate in vitro.
Subunit:
Homodimer.
Subcellular Location:
Mitochondrion. Cytoplasm, cytosol.
Tissue Specificity:
Ubiquitous (at protein level).
Similarity:
Belongs to the FAH family.
SWISS:
Q6P587
Gene ID:
81889
Database links:
Entrez Gene: 81889 Human
Entrez Gene: 68636 Mouse
Entrez Gene: 100171851 Orangutan
Omim: 616320 Human
SwissProt: Q6P587 Human
SwissProt: Q8R0F8 Mouse
SwissProt: Q5RDW0 Orangutan
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