AMACR - alpha-methylacyl-CoA racemase Gene

Homo sapiens

Also known as RM; RACE; CBAS4; P504S; AMACRD

Gene ID: 23600 | Gene type: protein coding

About AMACR

Cytogenetic location: 5p13.2 Genomic coordinates (GRCh38): 5:33,986,165-34,008,050 (from NCBI)

This gene has 6 transcripts (splice variants), 201 orthologues, 1 paralogue and is associated with 4 phenotypes. Broad expression in kidney (RPKM 38.3), liver (RPKM 31.1) and 22 other tissues.

Summary

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 localize 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]

AMACR Products(3)

mRNA	Protein	Name
NM_001167595.2	NP_001161067.1	alpha-methylacyl-CoA racemase isoform 3
NM_014324.6	NP_055139.4	alpha-methylacyl-CoA racemase isoform 1
NM_203382.3	NP_976316.1	alpha-methylacyl-CoA racemase isoform 2

AMACR Protein Structure

CoA_transf_3

0
100
200
300
382 a.a.

Protein Preferred Names

Protein Names

alpha-methylacyl-CoA racemase

2-methylacyl-CoA racemase

Related Diseases

Diseases

Alias

Bile Acid Synthesis Defect, Congenital, 4

CBAS4	Trihydroxycoprostanic Acid In Bile
Congenital Bile Acid Synthesis Defect 4	Intrahepatic Cholestasis With Defective Conversion Of Trihydroxycoprostanic Acid To Cholic Acid
Cholestasis, Intrahepatic, With Defective Conversion Of Trihydroxycoprostanic Acid To Cholic Acid	Cholestasis, Intrahepatic, With Defective Conversion Of
Trihydroxycoprostanic Acid To Cholic Acid	Congenital Bile Acid Synthesis Defect Type 4
2-Methylacyl-Coa Racemase Deficiency	Amacr Deficiency
Alpha-Methyl-Acyl-Coa Racemase Deficiency	Basd4
Liver Disease-Retinitis Pigmentosa-Polyneuropathy-Epilepsy Syndrome	Bile Acid Synthesis Defect, Congenital, Type 4
Alpha-Methylacyl-Coa Racemase Deficiency

Alpha-Methylacyl-Coa Racemase Deficiency

Amacr Deficiency

AMACRD

Refsum Disease, Classic

Refsum Disease	Heredopathia Atactica Polyneuritiformis
Phytanic Acid Oxidase Deficiency	Hmsn Iv
Refsum Disease, Adult, 1	Refsum'S Disease
Phytanic Acid Storage Disease	Hereditary Motor And Sensory Neuropathy Iv
Hmsn4	Hmsn Type Iv
Hmsn 4	Adult Refsum Disease
Classic Refsum Disease	Hereditary Motor And Sensory Neuropathy Type Iv
Refsum Syndrome	Hsmn Iv
Disorder Of Cornification 11	Doc 11
Hereditary Sensory And Motor Neuropathy Type 4	Hypertrophic Neuropathy Of Refsum
Ard	Crd
Hereditary Motor And Sensory Neuropathy Type 4	Phytanic-Coa Hydroxylase Deficiency
RD

Nephrogenic Adenoma

Nephrogenic Metaplasia

Metanephric Adenoma

Renal Adenoma

Renal Cell Adenoma

Oncocytoma

Oxyphilic Adenoma	Follicular Adenoma, Oxyphilic Cell
Adenoma, Oxyphilic	Hurthle Cell Tumor
Oncocytic Neoplasm

Prostatic Acinar Adenocarcinoma

Acinar Prostate Adenocarcinoma

Nephrogenic Adenoma Of Urinary Bladder

Nephrogenic Adenoma Of The Urinary Bladder

Barrett Esophagus

Barrett'S Esophagus	Barrett Esophagus/Esophageal Adenocarcinoma
Barrett Metaplasia	Barrett'S Ulcer Of Esophagus
Ulcerative Esophagitis	Barrett'S Esophagus With Esophagitis
Barrett'S Oesophagus	Barretts Syndrome
Barrett Syndrome	BE
Peptic Ulcer Of Esophagus	Adenocarcinoma Of Esophagus

Adrenomyeloneuropathy

Amn	Adrenoleukodystrophy

Wolffian Duct Adenoma

Benign Mesonephroma	Mesonephric Adenoma
Mesonephroma, Benign	Fatwo
Female Adnexal Tumor Of Probable Wolffian Origin	Wat
Wolffian Adenoma	Wolffian Adnexal Tumor
Wolffian Tumor

Prostate Lymphoma

Lymphoma Of Prostate

Congenital Bile Acid Synthesis Defect

3-Beta-Hydroxy-Delta-5-C27-Steroid Oxidoreductase Deficiency	Cba
Cholestasis With Delta(4)-3-Oxosteroid-5-Beta-Reductase Deficiency	Basd
Bile Acid Synthesis Defect, Congenital, 1

Female Urethral Cancer

Female Urethral Malignant Neoplasm

Male Urethral Cancer

Male Urethral Malignant Neoplasm

Prostatic Urethral Cancer

Kidney Benign Neoplasm

Renal And Ureteral Tumor

Benign Kidney Neoplasm

Papillary Adenoma

Glandular Papilloma

Adenoma

Neuropathy

Peripheral Neuropathy

Peripheral Neuropathies

Nephrogenic Adenoma Of The Urethra

Nephrogenic Adenoma Of Urethra

Seminal Vesicle Adenocarcinoma

Bladder Benign Neoplasm

Prostate Cancer

Prostate Carcinoma	Prostate Cancer, Familial
Prostate Neoplasm	Prostate Cancer, Somatic
Prostate Cancer, Susceptibility To	Prostatic Cancer
Prostatic Neoplasms	Hereditary Prostate Cancer
Prostatic Neoplasm	Cancer Of Prostate
Carcinoma Of Prostate	Familial Prostate Cancer
Familial Prostate Carcinoma	Malignant Tumor Of Prostate
Malignant Neoplasm Of Prostate	Prostate Cancer, Familial, Susceptibility To
Malignant Tumor Of The Prostate	Ngp - New Growth Of Prostate
Tumor Of The Prostate	Prostate Cancer, Hereditary
Cancer Of The Prostate	Malignant Neoplasm Of The Prostate
Prostatic Carcinoma	PC
Prca	Cancer, Prostate
Malignant Prostatic Tumour	Malignant Tumour Of Prostate
Primary Prostate Cancer	Primary Malignant Neoplasm Of Prostate
Prostate Gland Cancer

Mucinous Tubular And Spindle Renal Cell Carcinoma

Mucinous Tubular And Spindle Cell Renal Carcinoma

Renal Oncocytoma

Oncocytoma, Renal	Oncocytoma Of Kidney
Renal Epithelial Oncocytic Tumor	Oncocytoma Kidney
Oncocytoma Renal	Kidney Oncocytoma

Epithelial Predominant Wilms' Tumor

Epithelial Predominant Kidney Adenosarcoma	Epithelial Predominant Renal Wilms Tumor
Epithelial Predominant Renal Wilms Tumour	Epithelial Predominant Wilms' Tumour

Bladder Clear Cell Adenocarcinoma

Bladder Mesonephric Adenocarcinoma

Clear Cell Adenocarcinoma Of Bladder

Aromatase Excess Syndrome

AEXS	Increased Aromatase Activity
Familial Hyperestrogenism	Hereditary Prepubertal Gynecomastia
Aromatase Activity, Increased	Familial Gynecomastia Due To Increased Aromatase Activity
Hereditary Gynecomastia	Gynecomastia, Familial
Familial Gynecomastia

Prostate Disease

Prostatic Diseases

Prostate Diseases

Renal Cell Carcinoma, Nonpapillary

Renal Cell Carcinoma	RCC
Nonpapillary Renal Cell Carcinoma	Clear Cell Renal Cell Carcinoma
Hypernephroma	Adenocarcinoma Of Kidney
Renal Carcinoma, Chromophobe, Somatic	Clear Cell Carcinoma Of Kidney
Clear-Cell Metastatic Renal Cell Carcinoma	Clear Cell Renal Carcinoma
Renal Cell Carcinoma, Somatic	Conventional Renal Cell Carcinoma
Conventional Renal Cell Carcinoma	Renal Clear Cell Carcinoma
Ccrcc	Hereditary Clear Cell Renal Cell Carcinoma
Carcinoma, Renal Cell	Renal Cell Carcinoma, Clear Cell, Somatic
Renal Cell Carcinoma, Clear Cell	Clear Cell Kidney Carcinoma
Clear Cell Rcc	Cystic-Multilocular Variant
Clear Cell Renal Cell Adenocarcinoma	Hereditary Clear Cell Renal Cell Adenocarcinoma
Common Renal Cell Carcinoma	Crcc
Renal Cell Carcinoma Non-Papillary	Carcinoma Renal Cell
Renal Cell Cancer	Carcinoma, Renal Cell, Nonpapillary

Bladder Urachal Carcinoma

Urachal Cancer

Urachal Carcinoma

Urachus Cancer

Malignant Tumor Of Urachus

Non-Invasive Bladder Urothelial Carcinoma

Stage 0 Bladder Urothelial Carcinoma

Cystitis Cystica

Intrahepatic Cholestasis

Cholestasis, Intrahepatic	Neonatal Intrahepatic Cholestasis
Cholestasis Intrahepatic	Cholestasis Of Pregnancy

Bladder Adenocarcinoma

Adenocarcinoma Of Bladder	Adenocarcinoma Of The Urinary Bladder
Bladder Adenocarcinoma, Not Otherwise Specified	Adenocarcinoma Bladder

Kidney Cortex Disease

Prostate Transitional Cell Carcinoma

Transitional Cell Carcinoma Of Prostate

Primary Prostate Urothelial Carcinoma

Glandular Cystitis

Cystitis Glandularis

Urethral Benign Neoplasm

Urethral Neoplasms	Neoplasm Of Urethra
Neoplasm. Urethra	Urethral Neoplasm
Urethral Carcinoma	Malignant Neoplasm Of Urethra

Chromophil Adenoma Of The Kidney

Papillary Adenoma Of The Kidney

Zellweger Syndrome

Cerebrohepatorenal Syndrome	Zellweger Leukodystrophy
Zs	Congenital Iron Overload
Chr	Zws
Severe Pbd-Zsd	Severe Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder

Collecting Duct Carcinoma

Kidney Medullary Carcinoma	Renal Medullary Carcinoma
Bdc	Bellini Carcinoma
Bellini Duct Carcinoma	Cdc
Collecting Duct Carcinoma Of The Kidney	Renal Cell Adenocarcinoma
Carcinoma Of Renal Collecting Duct	Renal Carcinoma, Collecting Duct Type
Renal Cell Carcinoma	Bellini'S Duct Carcinoma
Renal Collecting Duct Carcinoma	Adenocarcinoma Of Kidney

Neonatal Jaundice

Neonatal Hyperbilirubinemia	Neonatal Icterus
Jaundice Neonatal	Jaundice, Neonatal
Hyperbilirubinemia, Neonatal

Epithelioid Type Angiomyolipoma

Epithelioid Angiomyolipoma

Nephrogenic Adenofibroma

Metanephric Adenofibroma

Renal Cell Carcinoma, Papillary, 1

Papillary Renal Cell Carcinoma	Hereditary Papillary Renal Cell Carcinoma
Papillary Renal Cell Carcinoma, Sporadic	Papillary Renal Cell Adenocarcinoma
RCCP	RCCP1
Renal Cell Carcinoma, Papillary	Renal Cell Carcinoma, Papillary, 1, Familial And Somatic
Chromophil Carcinoma Of Kidney	Papillary Kidney Carcinoma
Sporadic Papillary Renal Cell Carcinoma	Chromophil Renal Cell Carcinoma
Papillary Renal Carcinoma, Malignant -	Papillary Renal Cell Carcinoma, Bilateral -
Papillary Renal Cell Carcinoma, Familial -	Papillary Renal Cell Carcinoma, Multiple -
Papillary Renal Cell Carcinoma, Sporadic -	Renal Adenocarcinoma
Chromophil Rcc	Hprcc
Renal Cell Carcinoma Papillary	Chromophilic Renal Cell Carcinoma
Prcc	Carcinoma, Renal Cell, Papillary, Type 1
Type 1 Papillary Renal Cell Carcinoma	Renal Cell Carcinoma
Hereditary Papillary Renal Carcinoma

Suppression Of Tumorigenicity 12

Prostate Adenocarcinoma	Adenocarcinoma Of Prostate
ST12	Prostate Adenocarcinoma 1
Pac1

Chromophobe Renal Cell Carcinoma

Chromophobe Adenocarcinoma	Chromophobe Carcinoma Of Kidney
Kidney Chromophobe	Renal Cell Carcinoma, Chromophobe Cell
Crcc	Chrcc
Chromophobe Renal Cell Adenocarcinoma	Chromophobe Renal Carcinoma
Chromophobe Carcinoma

Colorectal Cancer

Colon Cancer	Colorectal Carcinoma
Colon Carcinoma	Colorectal Cancer, Susceptibility To
Carcinoma Of Colon	CRC
Colorectal Cancer With Chromosomal Instability, Somatic	Colon Cancer, Somatic
Colon Cancer, Susceptibility To	Colonic Neoplasms
Colorectal Neoplasms	Colorectal Cancer, Somatic
Colon Cancer, Advanced, Somatic	Colonic Carcinoma
Colorectal Carcinomas	Colon Cancers
Colorectal Cancers	Cancer, Colorectal, Somatic
Cancer, Colon	Cancer, Colorectal, Susceptibility To
Colorectal Neoplasm	Colonic Neoplasm
Malignant Tumor Of Colon

Peroxisomal Biogenesis Disorder

Zellweger Spectrum Disorders	Peroxisome Biogenesis Disorder-Zellweger Syndrome Spectrum
Disorders Of Peroxisome Biogenesis	Zellweger Spectrum
Zellweger Syndrome Spectrum	Peroxisomal Biogenesis Disorders
Pbd, Zss	Pbd-Zsd
Pbd-Zss	Pbd-Zellweger Spectrum Disorder
Peroxisomal Biogenesis Disorders, Zellweger Syndrome Spectrum	Peroxisome Biogenesis Disorder
Peroxisome Biogenesis Disorder Spectrum	Peroxisome Biogenesis Disorders
Zellweger Spectrum Disorder	Hyperpipecolic Acidaemia

Gastric Cancer

Stomach Cancer	Gastric Carcinoma
Stomach Carcinoma	Gastric Cancer, Somatic
Gastric Neoplasm	Carcinoma Of Stomach
Stomach Neoplasms	Malignant Neoplasm Of Stomach
Gastric Cancer Risk After H. Pylori Infection	Cancer Of The Stomach
Adult Stomach Cancer	Adult Stomach Carcinoma
GASC	Gastric Cancer Intestinal
Gastric Cancers	Gastric Carcinomas
Cancer, Gastric	Stomach Neoplasm
Malignant Neoplasm Of Body Of Stomach	Malignant Tumor Of Lesser Curve Of Stomach
Gastrocarcinoma Of Unspecified Site	Leather Bottle Stomach
Carcinoma Of Fundus Of Stomach	Cancer Of Fundus Of Stomach
Primary Malignant Neoplasm Of Body Of Stomach	Cancer Of Body Of Stomach
Primary Malignant Neoplasm Of Pyloric Antrum	Pyloric Antrum Cancer
Malignant Tumour Of Stomach

Retinitis Pigmentosa

RP	Rod-Cone Dystrophy
Autosomal Recessive Retinitis Pigmentosa	Non-Syndromic Retinitis Pigmentosa
Pericentral Pigmentary Retinopathy	Pigmentary Retinopathy
Tapetoretinal Degeneration	Rcd
Retinitis Pigmentosa Autosomal Recessive	ARRP
Retinitis Pigmentosa, Autosomal Recessive	Retinitis Pigmentosa 1

Inflammatory Bowel Disease

Inflammatory Bowel Diseases

Bowel Disease, Inflammatory

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS00640	AMACR Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	AMACR	VGNC	VGNC:97347
Rattus norvegicus	AMACR	RGD	RGD:3048
Canis familiaris	AMACR	VGNC	VGNC:37824
Bos taurus	AMACR	VGNC	VGNC:25856
Mus musculus	AMACR	MGD	MGI:1098273