1. Gene
  2. ABCC8 - ATP binding cassette subfamily C member 8 Gene

ABCC8 - ATP binding cassette subfamily C member 8 Gene

Homo sapiens

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

Gene ID: 6833 | Gene type: protein coding

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

ABCC8 Protein Structure

ABC_membrane

ABC_membrane: ABC transporter transmembrane region (320 - 590)

ABC_tran

ABC_tran: ABC transporter (696 - 856)

ABC_membrane

ABC_membrane: ABC transporter transmembrane region (1014 - 1293)

ABC_tran

ABC_tran: ABC transporter (1361 - 1509)

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  • 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

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