ABCC8 - ATP binding cassette subfamily C member 8 Gene

Also Known as HI; SUR; HHF1; MRP8; PHHI; SUR1; ABC36; HRINS; PNDM3; TNDM2; SUR1delta2

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 6833

About ABCC8

Cytogenetic location: 11p15.1 Genomic coordinates (GRCh38): 11:17,392,498-17,476,845 (from NCBI)

This gene has 100 transcripts (splice variants), 249 orthologues, 11 paralogues and is associated with 12 phenotypes. Biased expression in brain (RPKM 4.8), adrenal (RPKM 3.5) and 9 other tissues.

Summary

The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. This protein functions as a modulator of ATP-sensitive potassium channels and Insulin release. Mutations in the ABCC8 gene and deficiencies in the encoded protein have been observed in patients with hyperinsulinemic hypoglycemia of infancy, an autosomal recessive disorder of unregulated and high Insulin secretion. Mutations have also been associated with non-insulin-dependent diabetes mellitus type II, an autosomal dominant disease of defective Insulin secretion. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2020]

ABCC8 Products (5)

mRNA	Protein	Name
NM_000352.6	NP_000343.2	ATP-binding cassette sub-family C member 8 isoform 2
NM_001287174.3	NP_001274103.1	ATP-binding cassette sub-family C member 8 isoform 1
NM_001351295.2	NP_001338224.1	ATP-binding cassette sub-family C member 8 isoform 3
NM_001351296.2	NP_001338225.1	ATP-binding cassette sub-family C member 8 isoform 4
NM_001351297.2	NP_001338226.1	ATP-binding cassette sub-family C member 8 isoform 5

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables ATPase-coupled monoatomic cation transmembrane transporter activity	IDA IDA: Inferred from direct assay	26181369	GOA
enables potassium channel activity	IMP IMP: Inferred from mutant phenotype	24814349	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	19805355	GOA
enables transmembrane transporter binding	IPI IPI: Inferred from physical interaction	20610380	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of inward rectifying potassium channel	IDA IDA: Inferred from direct assay	20610380	GOA
part of inward rectifying potassium channel	IPI IPI: Inferred from physical interaction	29286281	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

ABCC8 Protein Structure

ABC_membrane

ABC_tran

ABC_membrane

ABC_tran

0
300
600
900
1200
1500
1581 a.a.

Protein Preferred Names	Protein Names
ATP-binding cassette sub-family C member 8	ATP-binding cassette transporter sub-family C member 8

Related Diseases

Diseases	Alias
Hyperinsulinemic Hypoglycemia, Familial, 1	HHF1 Persistent Hyperinsulinemic Hypoglycemia Of Infancy Familial Hyperinsulinemic Hypoglycemia 1 Congenital Hyperinsulinism Phhi Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency Hypoglycemia, Hyperinsulinemic, Of Infancy Hyperinsulinemic Hypoglycemia Due To Focal Adenomatous Hyperplasia Nesidioblastosis Of Pancreas Hyperinsulinism, Familial, With Pancreatic Nesidioblastosis Hyperinsulinism, Congenital Autosomal Dominant Hyperinsulinemic Hypoglycemia Due To Sur1 Deficiency Diazoxide-Resistant Focal Hyperinsulinism Due To Sur1 Deficiency Hyperinsulinemic Hypoglycemia Due To Sur1 Deficiency, Diazoxide-Resistant Focal Form Autosomal Recessive Hyperinsulinism Due To Sur1 Deficiency Autosomal Recessive Hyperinsulinemic Hypoglycemia Due To Sur1 Deficiency Hypoglycemia, Hyperinsulinemic, Familial, Type 1
Hypoglycemia, Leucine-Induced	Leucine-Sensitive Hypoglycemia Of Infancy Leucine-Induced Hypoglycemia LIH Hypoglycemia Of Infancy, Leucine-Sensitive Familial Infantile Hypoglycemia Precipitated By Leucine Hypoglycemia Leucine Induced Hypoglycemia Leucine-Induced
Diabetes Mellitus, Transient Neonatal, 2	TNDM2 Diabetes Mellitus, Transient Neonatal 2 Transient Neonatal Diabetes Mellitus 2
Diabetes Mellitus, Permanent Neonatal, 3	PNDM3 Diabetes Mellitus, Permanent Neonatal 3, With Or Without Neurologic Features Diabetes Mellitus, Permanent Neonatal 3 Dend2 Developmental Delay, Epilepsy, And Neonatal Diabetes 2 Diabetes, Permanent Neonatal 3, With Or Without Neurologic Features
Diabetes Mellitus, Permanent Neonatal, 1	PNDM1 Pdmi Dend Syndrome Permanent Diabetes Mellitus Of Infancy Permanent Neonatal Diabetes Mellitus 1 Diabetes Mellitus, Permanent, Of Infancy Diabetes Mellitus, Permanent Neonatal 1 Developmental Delay-Epilepsy-Neonatal Diabetes Syndrome Dend Developmental Delay Epilepsy And Neonatal Diabetes Diabetes Mellitus Permanent Neonatal With Neurologic Features Diabetes Mellitus, Permanent Neonatal, Type 1
Hypoglycemia	Hypoglycaemia Low Blood Sugar Hypoglycaemia Nos Spontaneous Hypoglycaemia Nondiabetic Hypoglycaemia Hypoglycaemic Disorder Nos Hypoglycaemic Syndrome
Hyperinsulinemic Hypoglycemia	Nesidioblastosis Islet Cell Hyperplasia Persistent Hyperinsulinemia Hypoglycemia Of Infancy Hyperinsulinemic Hypoglycaemia
Permanent Neonatal Diabetes Mellitus	Pndm Permanent Diabetes Mellitus Of Infancy Pdmi Neonatal Diabetes Mellitus, Permanent
Isolated Permanent Neonatal Diabetes Mellitus	Isolated Pndm Monogenic Diabetes Of Infancy
Hyperinsulinemic Hypoglycemia, Familial, 2	Persistent Hyperinsulinemic Hypoglycemia Of Infancy Phhi Familial Hyperinsulinism Congenital Hyperinsulinism HHF2 Nesidioblastosis Hyperinsulinemic Hypoglycemia Due To Focal Adenomatous Hyperplasia Familial Hyperinsulinemic Hypoglycemia 2 Autosomal Recessive Hyperinsulinemic Hypoglycemia Due To Kir6.2 Deficiency Chi Congenital Isolated Hyperinsulinism Hyperinsulinemic Hypoglycemia, Persistent Hyperinsulinism, Neonatal Hyperinsulinism, Congenital Hyperinsulinism, Familial Hyperinsulinemic Hypoglycemia Familial Hyperinsulinism Congenital Hyperinsulinism Familial With Pancreatic Nesidioblastosis Hypoglycemia Hyperinsulinemic Of Infancy Nesidioblastosis Of Pancreas Hyperinsulinemic Hypoglycemia Familial 2 Hyperinsulinemia Hypoglycemia Of Infancy Infancy Hyperinsulinemia Hypoglycemia Neonatal Hyperinsulinism Persistent Hyperinsulinemia Hypoglycemia Of Infancy Persistent Hyperinsulinemic Hypoglycemia Phhi Hypoglycemia Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency Autosomal Dominant Hyperinsulinemic Hypoglycemia Due To Kir6.2 Deficiency Dominant Katp Hyperinsulinism Due To Kir6.2 Deficiency Diazoxide-Resistant Focal Hyperinsulinism Due To Kir6.2 Deficiency Hyperinsulinemic Hypoglycemia Due To Kir6.2 Deficiency, Diazoxide-Resistant Focal Form Fhi Familial Hyperinsulinemic Hypoglycemia Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency Hypoglycemia, Hyperinsulinemic, Familial, Type 2 Hi-C
Type 2 Diabetes Mellitus	Insulin Resistance NIDDM Type 2 Diabetes Diabetes Mellitus, Non-Insulin-Dependent T2D Noninsulin-Dependent Diabetes Mellitus Diabetes Mellitus, Type Ii Maturity-Onset Diabetes Insulin Resistance, Severe, Digenic Diabetes Mellitus, Type 2 Diabetes Mellitus, Noninsulin-Dependent Diabetes Mellitus, Noninsulin-Dependent, Association With Diabetes Mellitus, Noninsulin-Dependent, Late Onset Hypertension, Insulin Resistance-Related, Susceptibility To Insulin Resistance, Susceptibility To Non-Insulin-Dependent Diabetes Mellitus Type Ii Diabetes Mellitus Adult-Onset Diabetes Mellitus Maturity-Onset Diabetes Mellitus Diabetes Mellitus Type 2 Type Ii Diabetes Type 2 Diabetes Mellitus, Susceptibility To Diabetes, Type 2 Diabetes Mellitus, Noninsulin-Dependent, Susceptibility To Diabetes Mellitus, Non-Insulin-Dependent, Susceptibility To Diabetes Mellitus, Type 2, Susceptibility To Diabetes Mellitus, Noninsulin-Dependent, 2 Diabetes Mellitus, Type Ii, Susceptibility To Hypertension, Insulin Resistance-Related Adult-Onset Diabetes Aodm Diabetes Mellitus, Adult-Onset Diabetes Mellitus Type Ii Diabetes Mellitus Type 2, Susceptibility To Diabetes, Type Ii, Susceptibility To Diabetes Type 2 Diabetes Mellitus Adult Onset Diabetes Maturity Onset Diabetes Nonketotic Diabetes Non-Insulin Dependent Diabetes Mellitus T2dm - [Type 2 Diabetes Mellitus] Niddm - [Non Insulin Dependent Diabetes Mellitus] Dm2 Dm Type Ii Diabetic Type 2 Insulin Requiring Type 2 Diabetes Noninsulin Dependent Diabetes Non-Insulin-Dependent Diabetes Mellitus Without Complications Diabetes Due To Insulin Secretory Defect Diabetes Mellitus Due To Insulin Secretory Defect Non-Insulin-Dependent Diabetes Of The Young Senile Diabetes Nonketotic Hyperglycaemia Stable Diabetes
Diabetes Mellitus	Diabetes
Transient Neonatal Diabetes Mellitus	Diabetes Mellitus, Transient Neonatal Tndm Chromosome 6-Associated Transient Diabetes Mellitus Dmtn Diabetes Mellitus, 6q24-Related Transient Neonatal Tndm1 Neonatal Diabetes Mellitus, Transient Tndm -[Transient Neonatal Diabetes Mellitus]
Maturity-Onset Diabetes Of The Young	MODY Maturity Onset Diabetes Mellitus In Young Mason-Type Diabetes Mason Type Diabetes Maturity Onset Diabetes Of The Young Mody Syndrome Diabetes Of The Young, Maturity-Onset
Neonatal Diabetes	Neonatal Diabetes Mellitus Diabetes Mellitus Syndrome In Newborn Infant Ndm
Newborn Respiratory Distress Syndrome	Hyaline Membrane Disease Respiratory Distress Syndrome Of Newborn Neonatal Respiratory Distress Hmd - Hyaline Membrane Disease Neonatal Respiratory Distress Syndrome Pulmonary Hyaline Membrane Disease Pulmonary Hypoperfusion Syndrome Of Newborn Respiratory Distress Syndrome, Newborn Respiratory Distress Syndrome Cardiorespiratory Distress Syndrome Of Newborn Distress Respiratory Syndrome Newborn Idiopathic Respiratory Distress Syndrome Idiopathic Respiratory Distress Syndrome Of Newborn Newborn Idiopathic Respiratory Distress Syndrome Respiratory Distress Syndrome In Newborn Rds - [Respiratory Distress Syndrome] Of Newborn Newborn Cardiorespiratory Distress Syndrome
Hyperinsulinism	Hyperinsulinemia
Congestive Heart Failure	Congestive Heart Disease Heart Failure Cardiac Failure Congestive Chf Weak Heart Heart Failure Congestive Ccf - [Congestive Cardiac Failure] Chf - [Congestive Heart Failure] Congestive Cardiac Diseases Congested Heart Failure Congestive Cardiac Failure Cardiac Anasarca Cardiac Oedema Cardiac Stasis Cardiovascular Oedema Cardiac Hydrops Congestive Failure Heart Congestion Heart Fluid Oedematous Heart
Polyhydramnios
Hyperglycemia
Interatrial Communication	Asd Atrial Septal Defect Interauricular Communication
Monogenic Diabetes
Atrial Heart Septal Defect	Atrial Septal Defect Atrial Septal Defects Atrioseptal Defect Auricular Septal Defect Congenital Atrial Septal Defect Interatrial Septal Defect Interauricular Septal Defect Heart Septal Defects, Atrial Septal Defect, Atrial
Gastroesophageal Reflux	Gastroesophageal Reflux Disease Gerd GER Gastroesophageal Reflux, Pediatric Acid Reflux Gastresophageal Reflux Gastro-Esophageal Reflux Gerd - Gastro-Esophageal Reflux Disease
Intracranial Hypertension	Raised Intracranial Pressure
Insulinoma	Islet Cell Adenoma Insulin-Producing Tumor Of Islet Cells Adenoma Islet Cell Islet Cell Tumor Experimental Organism Islet Cell Adenoma Neoplasm
Fanconi-Bickel Syndrome	Glycogen Storage Disease Xi Lactate Dehydrogenase A Deficiency Hepatorenal Glycogenosis With Renal Fanconi Syndrome Hepatic Glycogenosis With Amino Aciduria And Glucosuria Fanconi Syndrome With Intestinal Malabsorption And Galactose Intolerance Pseudo-Phlorizin Diabetes Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency FBS Hepatic Glycogenosis With Fanconi Nephropathy GSD11 Gsd Xi Glycogen Storage Disease Due To Glut2 Deficiency Glycogenosis Fanconi Type Lactate Dehydrogenase Deficiency Type A Glycogenosis, Fanconi Type Fanconi Bickel Syndrome Glut2 Deficiency Gsd Due To Glut2 Deficiency Glycogenosis Due To Glut2 Deficiency Gsd Due To Lactate Dehydrogenase M-Subunit Deficiency Glycogenosis Due To Lactate Dehydrogenase M-Subunit Deficiency Ldh-M Subunit Deficiency Glycogen Storage Disease 11 Storage Disease, Glycogen, Type Xi Glycogenosis With Glucoaminophosphaturia
Cantu Syndrome	Hypertrichotic Osteochondrodysplasia Hypertrichotic Osteochondrodysplasia Cantu Type Cantú Syndrome Craniofaciocardioskeletal Syndrome Hypertrichosis-Osteochondrodysplasia-Cardiomegaly Syndrome Congenital Hypertrichosis-Acromegaloid Facial Features Spectrum Congenital Hypertrichosis-Coarse Facial Features Spectrum HTOCD Osteochondrodysplasia, Hypertrichotic
Maturity-Onset Diabetes Of The Young, Type 13	Maturity-Onset Diabetes Of The Young Type 13 MODY13 Mody Type 13 Mody, Type 13 Maturity-Onset Diabetes Of The Young 13 Diabetes Of The Young, Maturity-Onset, Type 13
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Wolcott-Rallison Syndrome Med-Iddm Syndrome Iddm-Med Syndrome Wolcott Rallison Syndrome WRS Epiphyseal Dysplasia Multiple With Early-Onset Diabetes Mellitus Early-Onset Diabetes Mellitus With Multiple Epiphyseal Dysplasia Multiple Epiphyseal Dysplasia With Early-Onset Diabetes Mellitus
Hyperinsulinemic Hypoglycemia, Familial, 6	Hyperinsulinism-Hyperammonemia Syndrome HHF6 Familial Hyperinsulinemic Hypoglycemia 6 Hi/Ha Syndrome Ha/Hi Syndrome Hyperinsulinemic Hypoglycemia Familial 6 Hyperinsulinism Hyperammonemia Syndrome Hhs
Gestational Diabetes	Gestational Diabetes Mellitus GDM Diabetes Mellitus Arising In Pregnancy Maternal Gestational Diabetes Mellitus Diabetes Mellitus, Gestational Diabetes Mellitus, Pregnancy Related Diabetes, Pregnancy-Induced Diabetes Gestational Diabetes, Gestational Diabetes Of Pregnancy Gdm - [Gestational Diabetes Mellitus] Gestational Diabetes Mellitus Nos Gestational Diabetes Complicating Pregnancy, Childbirth, Or The Puerperium
Maturity-Onset Diabetes Of The Young, Type 7	Maturity-Onset Diabetes Of The Young Type 7 MODY7 Maturity-Onset Diabetes Of The Young, Type Vii Maturity-Onset Diabetes Of The Young 7 Mody-7 Mody Type 7 Diabetes Of The Young, Maturity-Onset, Type 7
Pseudoxanthoma Elasticum	PXE Gronblad-Strandberg Syndrome Pseudoxanthoma Elasticum, Modifier Of Severity Of Gronblad-Strandberg-Touraine Syndrome Gronblad Strandberg Syndrome Groenblad-Strandberg Syndrome Nevus Elasticus Pxe - [Pseudoxanthoma Elasticum]
Maturity-Onset Diabetes Of The Young, Type 14	Maturity-Onset Diabetes Of The Young Type 14 MODY14 Maturity-Onset Diabetes Of The Young 14 Diabetes Of The Young, Maturity-Onset, Type 14
Amyotrophic Lateral Sclerosis Type 22	Als 22 Amyotrohpic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia Amyotrophic Lateral Sclerosis 22
Munchausen By Proxy	Munchausen Syndrome By Proxy Munchausen By Proxy Syndrome Münchausen Syndrome By Proxy
Maturity-Onset Diabetes Of The Young, Type 10	Maturity-Onset Diabetes Of The Young Type 10 MODY10 Maturity-Onset Diabetes Of The Young 10 Mody-10 Mody Type 10 Diabetes Of The Young, Maturity-Onset, Type 10
Epilepsy	Epilepsy Syndrome Epileptic Syndrome Epilepsies Symptomatic Epilepsies Post Traumatic Epilepsy Traumatic Epilepsy Traumatic Epileptic Epilepsy Due To Hippocampal Sclerosis Epilepsy With Ammon'S Horn Sclerosis Epilepsy Due To Cortical Dysplasia Epilepsy Due To Neuronal Migration Disorders
Maturity-Onset Diabetes Of The Young, Type 9	Maturity-Onset Diabetes Of The Young Type 9 MODY9 Maturity-Onset Diabetes Of The Young, Type Ix Maturity-Onset Diabetes Of The Young 9 Mody-9 Mody Type 9 Diabetes Of The Young, Maturity-Onset, Type 9
Maturity-Onset Diabetes Of The Young, Type 11	Maturity-Onset Diabetes Of The Young Type 11 MODY11 Maturity-Onset Diabetes Of The Young 11 Mody-11 Mody Type 11 Diabetes Of The Young, Maturity-Onset, Type 11
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction	Maturity-Onset Diabetes Of The Young Type 8 MODY8 Dped Maturity-Onset Diabetes Of The Young, Type Viii Mody Type 8 Diabetes And Pancreatic Exocrine Dysfunction Diabetes-Pancreatic Exocrine Dysfunction Syndrome Diabetes And Pancreatic Exocrine Maturity-Onset Diabetes Of The Young Type 8 With Exocrine Dysfunction Maturity-Onset Diabetes Of The Young 8 With Exocrine Dysfunction Diabetes And Pancreatic Exocrine Dysfunction Syndrome Mody-8 Diabetes Of The Young, Maturity-Onset, Type 8
Asphyxia Neonatorum	Birth Asphyxia Postnatal Asphyxia Asphyxia - Birth Asphyxia, In Liveborn Infant Hypoxia Neonatorum Hypoxia, In Liveborn Infant Intrapartum Asphyxia Neonatal Asphyxia Newborn Asphyxia Asphyxia In Liveborn Infant Asphyxia Of Newborn Nos Perinatal Asphyxia Perinatal Hypoxia Newborn Asphyxiation
Beckwith-Wiedemann Syndrome	Wiedemann-Beckwith Syndrome BWS Exomphalos-Macroglossia-Gigantism Syndrome Emg Syndrome Beckwith-Wiedemann Syndrome Due To Cdkn1c Mutation Emg Abnormality Wbs Exomphalos Macroglossia Gigantism Syndrome Beckwith-Wiedemann Syndrome Due To Nsd1 Mutation Macroglossia Exomphalos Gigantism
Hyperinsulinemic Hypoglycemia, Familial, 3	HHF3 Hyperinsulinism Due To Glucokinase Deficiency Familial Hyperinsulinemic Hypoglycemia 3 Hyperinsulinemic Hypoglycemia Due To Glucokinase Deficiency Hyperinsulinemic Hypoglycemia Familial 3 Congenital Hyperinsulinism Persistent Hyperinsulinemic Hypoglycemia Of Infancy Phhi Hypoglycemia, Hyperinsulinemic, Familial, Type 3
Glucose Intolerance	Glucose: Intolerance Glucose: Malabsorption Malabsorption Of Glucose Impaired Glucose Tolerance
Maturity-Onset Diabetes Of The Young, Type 2	Maturity-Onset Diabetes Of The Young Type 2 MODY2 Mody Glucokinase-Related Mody Type 2 Mody, Type 2 Mody, Glucokinase-Related Mody, Type Ii Maturity-Onset Diabetes Of The Young 2 Mody-2 Diabetes Of The Young, Maturity-Onset, Type 2 Diabetes Mellitus Autosomal Dominant Type Ii
Cardiomyopathy, Dilated, 1o	Dilated Cardiomyopathy 1o CMD1O Dilated Cardiomyopathy With Ventricular Tachycardia Cardiomyopathy, Dilated, With Ventricular Tachycardia Cardiomyopathy, Dilated 1o Cardiomyopathy, Dilated, Type 1o
Thiamine-Responsive Megaloblastic Anemia Syndrome	TRMA Rogers Syndrome Thiamine-Responsive Myelodysplasia Thiamine-Responsive Anemia Syndrome Thiamine Metabolism Dysfunction Syndrome 1 Thmd1 Megaloblastic Anemia, Thiamine-Responsive, With Diabetes Mellitus And Sensorineural Deafness Thiamine-Responsive Megaloblastic Anemia With Diabetes Mellitus And Sensorineural Deafness Thiamine Responsive Megaloblastic Anemia Syndrome Megaloblastic Anemia Thiamine-Responsive With Diabetes Mellitus And Sensorineural Deafness Thiamine-Responsive Megaloblastic Anemia Thiamine-Responsive Anaemia Syndrome Thiamine-Responsive Megaloblastic Anaemia Syndrome Thiamine-Responsive Megaloblastic Anaemia With Diabetes Mellitus And Sensorineural Deafness Thiamine-Responsive Megaloblastic Anemia With Diabetes Mellitus And Sensorineural Hearing Loss
Maturity-Onset Diabetes Of The Young, Type 1	Maturity-Onset Diabetes Of The Young Type 1 MODY1 Mild Juvenile Diabetes Mellitus Mody, Type I Diabetes Mellitus Type 2 Mody Type 1 Mody, Type 1 Maturity-Onset Diabetes Of The Young 1 Mody-1 Diabetes Of The Young, Maturity-Onset, Type 1
Maturity-Onset Diabetes Of The Young, Type 3	Maturity-Onset Diabetes Of The Young Type 3 MODY3 Mody, Type Iii Mody Type 3 Mody, Type 3 Maturity-Onset Diabetes Of The Young 3 Mody-3 Diabetes Of The Young, Maturity-Onset, Type 3
Maturity-Onset Diabetes Of The Young, Type 4	Maturity-Onset Diabetes Of The Young Type 4 MODY4 Mody, Type Iv Mody Type 4 Mody, Type 4 Maturity-Onset Diabetes Of The Young 4 Mody-4 Diabetes Of The Young, Maturity-Onset, Type 4 Maturity-Onset Diabetes Of The Young, Type Iv
Maturity-Onset Diabetes Of The Young, Type 6	MODY6 Maturity-Onset Diabetes Of The Young Type 6 Maturity-Onset Diabetes Of The Young 6 Mody Type 6 Mody, Type 6 Mody-6 Diabetes Of The Young, Maturity-Onset, Type 6
Hyperinsulinemic Hypoglycemia, Familial, 7	HHF7 Exercise-Induced Hyperinsulinemic Hypoglycemia Exercise-Induced Hyperinsulinism Familial Hyperinsulinemic Hypoglycemia 7 Eihi Hyperinsulinism Due To Monocarboxylate Transporter 1 Deficiency Hyperinsulinism Due To Slc16a1 Deficiency Hyperinsulinemic Hypoglycemia, Exercise-Induced Exercise Induced Hyperinsulinemic Hypoglycemia Hyperinsulinemic Hypoglycemia Exercise-Induced Hyperinsulinemic Hypoglycemia Familial 7
Long Qt Syndrome	Romano-Ward Syndrome Long Q-T Syndrome Lqt Qt Syndrome, Long Congenital Long Qt Syndrome Familial Long Qt Syndrome
Factitious Disorder	Munchausen Syndrome Factitious Disorders Münchausen Syndrome
Pancreatic Agenesis	Partial Pancreatic Agenesis Congenital Pancreatic Agenesis Partial Agenesis Of The Pancreas Agenesis, Pancreatic Pancreatic Agenesis, Congenital
Renal Cysts And Diabetes Syndrome	RCAD Mody5 Congenital Anomalies Of The Kidney And Urinary Tract With Diabetes Cakut With Diabetes Maturity-Onset Diabetes Of The Young Type 5 Tubulointerstitial Kidney Disease, Autosomal Dominant, 3 Adtkd3 Atypical Familial Juvenile Hyperuricemic Nephropathy Atypical Fjhn Familial Hypoplastic Glomerulocystic Kidney Maturity-Onset Diabetes Of The Young, Type 5 Hyperuricemic Nephropathy, Familial Juvenile, Atypical Fjhn, Atypical Glomerulocystic Kidney Disease, Hypoplastic Type Glomerulocystic Kidney, Familial Hypoplastic Hypoplastic Type Glomerulocystic Kidney Disease Glomerulocystic Kidney Disease Hypoplastic Type Renal-Diabetes Mody5 Syndrome
Prediabetes Syndrome	Prediabetes Impaired Glucose Tolerance Prediabetic State IGT Igt - [Impaired Glucose Tolerance] Impaired Glucose Tolerance With Unspecified Complication Impaired Glucose Tolerance Without Complication Abnormal Glucose Tolerance
Usher Syndrome	Deafness-Retinitis Pigmentosa Syndrome Dystrophia Retinae Pigmentosa-Dysostosis Syndrome Graefe-Usher Syndrome Hallgren Syndrome Usher'S Syndrome Retinitis Pigmentosa-Deafness Syndrome Retinitis Pigmentosa-Hearing Loss Syndrome Ush Usher Syndromes
Pancreatic Cystadenoma	Cystadenoma Of Pancreas
Umbilical Hernia	Hernia, Umbilical
Fetal Erythroblastosis	Erythroblastosis, Fetal Ef - Erythroblastosis Foetalis Erythroblastosis Fetalis Haemolytic Disease Due To Rhesus Isoimmunisation Rhesus Isoimmunisation Of The Newborn
Fructose-1,6-Bisphosphatase Deficiency	Fructose-1,6-Diphosphatase Deficiency Baker-Winegrad Disease FBP1D Fbpase Deficiency Fructose 1,6 Diphosphatase Deficiency Fructose 1 Phosphate Aldolase Deficiency Fbp1 Deficiency Hereditary Fructose Intolerance Syndrome
Coronary Artery Vasospasm	Coronary Vasospasm Coronary Artery Spasm
Wolfram Syndrome 1	WFS1 Didmoad Wfs Diabetes Mellitus And Insipidus With Optic Atrophy And Deafness Diabetes Insipidus And Mellitus With Optic Atrophy And Deafness Diabetes Insipidus And Mellitus With Optic Atrophy And Deafness Syndrome Wolfram Syndrome
Wolfram Syndrome	Didmoad Syndrome Didmoad Diabetes Insipidus And Mellitus With Optic Atrophy And Deafness Wfs Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, And Deafness Didmoadud Diabetes Insipidus-Diabetes Mellitus-Optic Atrophy-Deafness Syndrome Diabetes Insipidus-Diabetes Mellitus-Optic Atrophy-Hearing Loss Syndrome
Hypertrichosis
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Homocystinuria, Cbld Type, Variant 1 Methylmalonic Aciduria And Homocystinuria Type Cbld Vitamin B12-Responsive Methylmalonic Acidemia, Type Cbldv2 MAHCD Methylmalonic Acidemia And Homocystinuria, Cbld Type Methylmalonic Aciduria, Cblh Type, Formerly Methylmalonic Acidemia, Cblh Type, Formerly Methylmalonic Aciduria, Cbld Type, Variant 2 Cobalamin D Deficiency Methylcobalamin Deficiency Type Cbldv1 Functional Methionine Synthase Deficiency Type Cbldv1 Vitamin B12-Responsive Methylmalonic Aciduria, Type Cbldv2 Methylmalonic Acidemia With Homocystinuria, Type Cbld Cbld Defect Cobalamin D Defect Combined Defect In Adenosylcobalamin And Methylcobalamin Synthesis, Type Cbld Methylmalonic Aciduria With Homocystinuria, Type Cbld Homocystinuria Cbld Variant 1 Methylmalonic Acidemia And Homocystinuria Cbld Type Methylmalonic Aciduria And Homocystinuria Cbld-Combined Methylmalonic Aciduria And Homocystinuria Cbld Original Methylmalonic Aciduria Cbld Variant 2 Aciduria, Methylmalonic, And Homocystinuria, Cbld Type
Kabuki Syndrome 1	Kabuki Syndrome Niikawa-Kuroki Syndrome Kabuki Make-Up Syndrome Kms KABUK1 Kabuki Make Up Syndrome Nks Kabuki Makeup Syndrome Kabuki Syndrome, Type 1
Patent Ductus Arteriosus 1	Patent Ductus Arteriosus PDA1 Pda Ductus Arteriosus, Patent Patent Ductus Arteriosus, Susceptibility To Patent Ductus Botalli Patency Of The Ductus Arteriosus Patent Ductus Arteriosus Familial Ductus Arteriosus Patent Patent Ductus Arteriosus - Persisting Type
Stroke, Ischemic	Cerebral Infarction Stroke Ischemic Stroke Cerebrovascular Accident Cerebral Infarction, Susceptibility To Stroke, Ischemic, Susceptibility To Cerebral Infarct Ischemic Stroke, Susceptibility To Stroke, Susceptibility To Cva - Cerebral Infarction ISCHSTR Ischemic Cerebrovascular Accident
Osteochondrodysplasia	Skeletal Dysplasia Chondrodystrophy Congenital Anomaly Of Cartilage Osteochondrodysplasias Cartilage Development Disorder Osteochondrodysplasia Syndrome Dysplasia, Skeletal Mucopolysaccharidosis Iv
Body Mass Index Quantitative Trait Locus 11	OBESITY Obesity, Susceptibility To Leanness, Inherited Obesity, Susceptibility To, Bmiq11 Obesity, Mild, Early-Onset Obesity, Association With Obesity, Early-Onset, Susceptibility To Obesity, Severe Obesity, Severe, And Type Ii Diabetes Obesity, Late-Onset Obesity , Susceptibility To BMIQ11 Obesity Bmiq11 Obesity, Early-Onset Simple Obesity Nos Excess Fat Obesity, Not Elsewhere Classified, Body Mass Index Not Elsewhere Classified Adiposis

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 (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS00066	ABCC8 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	ABCC8	VGNC	VGNC:69575
Rattus norvegicus	ABCC8	RGD	RGD:3786
Mus musculus	ABCC8	MGD	MGI:1352629
Bos taurus	ABCC8	VGNC	VGNC:25475
Canis familiaris	ABCC8	VGNC	VGNC:37443
Felis catus	ABCC8	VGNC	VGNC:67743