Amacr Gene Search Result

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4 records found for search term Amacr

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RGD ID	Symbol	Name	Description	Chr	Start	Stop	Species	Annotations	Match	Type
735888	AMACR	alpha-methylacyl-CoA racemase	This gene encodes a racemase. The encoded enzyme interconverts pristanoyl-CoA and C27-bile acylCoAs between their (R)- and (S)-stereoisomers. The conversion to the (S)-stereoisomers is necessary for degradation of these substrates by peroxisomal beta-oxidation. Encoded proteins from this locus local ... (more) ize to both mitochondria and peroxisomes. Mutations in this gene may be associated with adult-onset sensorimotor neuropathy, pigmentary retinopathy, and adrenomyeloneuropathy due to defects in bile acid synthesis. Alternatively spliced transcript variants have been described. Read-through transcription also exists between this gene and the upstream neighboring C1QTNF3 (C1q and tumor necrosis factor related protein 3) gene. [provided by RefSeq, Mar 2011]	5	33986165	34008050	Human	263	symbol , old_gene_name , COSMIC , Human Proteome Map	gene, protein-coding, REVIEWED [RefSeq]
7367995	C1QTNF3-AMACR	C1QTNF3-AMACR readthrough (NMD candidate)	This locus represents naturally occurring read-through transcription between the neighboring C1q and tumor necrosis factor related protein 3 (C1QTNF3) and alpha-methylacyl-CoA racemase (AMACR) genes on chromosome 5. The read-through transcript is a candidate for ... (more) nonsense-mediated mRNA decay (NMD), and is thus not likely to produce a protein product. [provided by RefSeq, Mar 2011]	5	33986986	34124528	Human	11	symbol , COSMIC , name , description , Human Proteome Map	gene, ncrna, VALIDATED [RefSeq]
16552404	AL451061.1	alpha-methylacyl-CoA racemase (AMACR) pseudogene					Human		name	gene, processed_pseudogene
1349299	OPN4	opsin 4	Opsins are members of the guanine nucleotide-binding protein (G protein)-coupled receptor superfamily. This gene encodes a photoreceptive opsin protein that is expressed within the ganglion and amacrine cell layers of the retina. In mouse, retinal ganglion cell ... (more) axons expressing this gene projected to the suprachiasmatic nucleus and other brain nuclei involved in circadian photoentrainment. In mouse, this protein is coupled to a transient receptor potential (TRP) ion channel through a G protein signaling pathway and produces a physiologic light response via membrane depolarization and increased intracellular calcium. The protein functions as a sensory photopigment and may also have photoisomerase activity. Experiments with knockout mice indicate that this gene attenuates, but does not abolish, photoentrainment. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]	10	86654547	86666460	Human	80	description	gene, protein-coding, VALIDATED [RefSeq]