AMACR - alpha-methylacyl-CoA racemase Gene

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

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 23600

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

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Verweise Source
enables alpha-methylacyl-CoA racemase activity IDA
IDA: Inferred from direct assay
7649182 GOA
enables alpha-methylacyl-CoA racemase activity IMP
IMP: Inferred from mutant phenotype
10655068 GOA
enables signaling receptor binding IPI
IPI: Inferred from physical interaction
11060344 GOA
Biological Process GO Annotation Evidence Verweise Source
involved in bile acid metabolic process IDA
IDA: Inferred from direct assay
10655068 GOA
Cellular Component GO Annotation Evidence Verweise Source
located in cytoplasm IDA
IDA: Inferred from direct assay
15941950 GOA
located in mitochondrion IDA
IDA: Inferred from direct assay
7649182 GOA
located in peroxisome IDA
IDA: Inferred from direct assay
7649182 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

AMACR Protein Structure

CoA_transf_3

CoA_transf_3: CoA-transferase family III (54 - 242)

  • 0
  • 100
  • 200
  • 300
  • 382 a.a.
Protein Preferred Names Protein Names

alpha-methylacyl-CoA racemase

  • 2-methylacyl-CoA racemase

AMACR Antibodies

Art. -Nr. Produktname Anwendung Reactivity
HY-P81341 AMACR Antibody (YA1086) WB, ICC/IF Rat, Human
HY-P81341A AMACR Antibody (YA1086)(PBS only) WB, ICC/IF Rat, Human
HY-P84863 AMACR Antibody (YA4560) WB, IHC-P, ICC/IF, ELISA Human, Mouse
HY-P84863A AMACR Antibody (YA4560)(PBS only) WB, IHC-P, ICC/IF, ELISA Human, Mouse

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
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)
Art. -Nr. Produktname
Wirkung
Reinheit
Rare Diseases
HY-RS00640 AMACR Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS19981 Amacr Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS26485 Amacr Rat Pre-designed siRNA Set A Pre-designed Set / 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