BTD - biotinidase Gene

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 686

About BTD

Cytogenetic location: 3p25.1 Genomic coordinates (GRCh38): 3:15,601,352-15,722,516 (from NCBI)

This gene has 22 transcripts (splice variants), 251 orthologues, 2 paralogues and is associated with 3 phenotypes. Ubiquitous expression in kidney (RPKM 6.6), fat (RPKM 5.9) and 25 other tissues.

Summary

The protein encoded by this gene functions to recycle protein-bound biotin by cleaving biocytin (biotin-epsilon-lysine), a normal product of carboxylase degradation, resulting in regeneration of free biotin. The encoded protein has also been shown to have biotinyl transferase activity. Mutations in this gene are associated with biotinidase deficiency. Multiple transcript variants encoding different isoforms have been described. [provided by RefSeq, Aug 2013]

BTD Products (41)

mRNA Protein Name
NM_001281723.4 NP_001268652.2 biotinidase isoform 1 precursor
NM_001281724.3 NP_001268653.2 biotinidase isoform 1 precursor
NM_001281725.3 NP_001268654.1 biotinidase isoform 1 precursor
NM_001281726.3 NP_001268655.2 biotinidase isoform 5 precursor
NM_001323582.2 NP_001310511.1 biotinidase isoform 1 precursor
NM_001370658.1 NP_001357587.1 biotinidase isoform 1 precursor
NM_001370752.1 NP_001357681.1 biotinidase isoform 6 precursor
NM_001370753.1 NP_001357682.1 biotinidase isoform 7 precursor
NM_001407364.1 NP_001394293.1 biotinidase isoform 1 precursor
NM_001407365.1 NP_001394294.1 biotinidase isoform 1 precursor
NM_001407366.1 NP_001394295.1 biotinidase isoform 1 precursor
NM_001407367.1 NP_001394296.1 biotinidase isoform 1 precursor
NM_001407368.1 NP_001394297.1 biotinidase isoform 1 precursor
NM_001407369.1 NP_001394298.1 biotinidase isoform 1 precursor
NM_001407370.1 NP_001394299.1 biotinidase isoform 1 precursor
NM_001407371.1 NP_001394300.1 biotinidase isoform 1 precursor
NM_001407372.1 NP_001394301.1 biotinidase isoform 1 precursor
NM_001407373.1 NP_001394302.1 biotinidase isoform 1 precursor
NM_001407374.1 NP_001394303.1 biotinidase isoform 1 precursor
NM_001407375.1 NP_001394304.1 biotinidase isoform 1 precursor
NM_001407376.1 NP_001394305.1 biotinidase isoform 1 precursor
NM_001407377.1 NP_001394306.1 biotinidase isoform 1 precursor
NM_001407378.1 NP_001394307.1 biotinidase isoform 1 precursor
NM_001407379.1 NP_001394308.1 biotinidase isoform 6 precursor
NM_001407380.1 NP_001394309.1 biotinidase isoform 8 precursor
NM_001407381.1 NP_001394310.1 biotinidase isoform 9 precursor
NM_001407382.1 NP_001394311.1 biotinidase isoform 5 precursor
NM_001407383.1 NP_001394312.1 biotinidase isoform 5 precursor
NM_001407384.1 NP_001394313.1 biotinidase isoform 5 precursor
NM_001407386.1 NP_001394315.1 biotinidase isoform 5 precursor
NM_001407388.1 NP_001394317.1 biotinidase isoform 5 precursor
NM_001407390.1 NP_001394319.1 biotinidase isoform 5 precursor
NM_001407392.1 NP_001394321.1 biotinidase isoform 5 precursor
NM_001407394.1 NP_001394323.1 biotinidase isoform 5 precursor
NM_001407395.1 NP_001394324.1 biotinidase isoform 5 precursor
NM_001407396.1 NP_001394325.1 biotinidase isoform 5 precursor
NM_001407397.1 NP_001394326.1 biotinidase isoform 5 precursor
NM_001407398.1 NP_001394327.1 biotinidase isoform 10 precursor
NM_001407399.1 NP_001394328.1 biotinidase isoform 10 precursor
NM_001407400.1 NP_001394329.1 biotinidase isoform 11 precursor
NM_001407401.1 NP_001394330.1 biotinidase isoform 12 precursor
Molecular Function GO Annotation Evidence Références Source
enables protein binding IPI
IPI: Inferred from physical interaction
28514442 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

BTD Protein Structure

CN_hydrolase

CN_hydrolase: Carbon-nitrogen hydrolase (88 - 269)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 543 a.a.
Protein Preferred Names Protein Names

biotinidase

  • biotinase

BTD Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Références
Intra
BTD P43251 MYO1D Homo sapiens O94832 33961781
Intra
BTD P43251 MYO1D Homo sapiens O94832 28514442
Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant BTD Proteins

Cat. No. Nom du produit Accession Pureté
HY-P72857 Biotinidase/BTD Protein, Human (HEK293, His) P43251 (A42-D543) ≥ 95%, as determined by reducing SDS-PAGE.

Related Diseases

Diseases Alias
Biotinidase Deficiency
  • Late-Onset Multiple Carboxylase Deficiency

  • BTD DEFICIENCY

  • Multiple Carboxylase Deficiency, Late-Onset

  • Multiple Carboxylase Deficiency, Juvenile-Onset

  • Juvenile-Onset Multiple Carboxylase Deficiency

  • Biotin Deficiency

  • Late-Onset Biotin-Responsive Multiple Carboxylase Deficiency

  • Deficiency Of Biotinidase

  • Biot

  • Carboxylase Deficiency, Multiple, Late-Onset

  • Late-Onset Mcd

  • Mcd Juvenile Form

  • Biotin Deficiency Disease

Biotin Deficiency
  • Biotin Deficiency Disease

  • B7 Deficiency

  • Biotan Vitamin Deficiency

Multiple Carboxylase Deficiency
  • Mcd

  • Holocarboxylase Synthetase Deficiency

Holocarboxylase Synthetase Deficiency
  • HLCS DEFICIENCY

  • Early-Onset Multiple Carboxylase Deficiency

  • Biotin- Ligase Deficiency

  • Neonatal Multiple Carboxylase Deficiency

  • Multiple Carboxylase Deficiency, Neonatal Form

  • Multiple Carboxylase Deficiency, Early Onset

  • Multiple Carboxylase Deficiency - Neonatal Onset

  • Early-Onset Biotin-Responsive Multiple Carboxylase Deficiency

  • Early-Onset Combined Carboxylase Deficiency

  • Infantile Multiple Carboxylase Deficiency

  • Biotin-Responsive Mcd

  • Biotin-Responsive Multiple Carboxylase Deficiency

  • Early-Onset Mcd

  • Mcd Neonatal Form

Seborrheic Dermatitis
  • Seborrhoeic Dermatitis

  • Seborrhea

  • Seborrhoeic Eczema

  • Skin Seborrheic

  • Dermatitis, Seborrheic

Organic Acidemia
  • Organic Aciduria

  • Disorder Of Organic Acid Metabolism

  • Organic Acid Metabolism Disorder

  • Organic Acidemias

  • Inherited Organic Acidemia

  • Organic Acidurias

  • Aciduria Organic

Galactosemia I
  • Galactosemia

  • Galt Deficiency

  • Classic Galactosemia

  • Galactose-1-Phosphate Uridylyltransferase Deficiency

  • Galactose-1-Phosphate Uridyltransferase Deficiency

  • GALAC1

  • Galactosemia, Classic

  • Galactosemia Type 1

  • Galactosemias

  • Classical Galactosemia

  • Galactosaemia

  • Galactose Intolerance

  • Epimerase Deficiency Galactosemia

  • Galactokinase Deficiency Disease

  • Galactose Epimerase Deficiency

  • Galactose-1-Phosphate Uridyl-Transferase Deficiency Disease

  • Gale Deficiency

  • Galk Deficiency

  • Udp-Galactose-4-Epimerase Deficiency Disease

  • Utp Hexose-1-Phosphate Uridylyltransferase Deficiency

  • Galactosemia 1

  • Galactosemia, Duarte Variant

  • Deficiency Of Galactokinase

  • Udpglucose 4-Epimerase Deficiency Disease

  • Classical Galactosaemia

  • Galput Deficiency - [Galactose-4-Phosphate Uridyltransferase] Deficiency

  • Classic Galactosaemia

  • Deficiency Of Hexose-1-Phosphate Uridylyltransferase

  • Deficiency Of Udpglucose-Hexose-1-Phosphate Uridylyltransferase

  • Deficiency Of Galactose-1-Phosphate Uridylyltransferase

  • Galactose-1-Phosphate Uridyl Transferase Deficiency

  • Transferase Deficiency Galactosemia

  • Deficiency Of Uridyl Transferase

  • Deficiency Of Utp-Hexose-1-Phosphate Uridylyltransferase

  • Utp-Hexose-1-Phosphate Uridyltransferase Deficiency

Dermatitis
  • Eczema

  • Skin Inflammation

  • Inflammatory Dermatosis

Metabolic Acidosis
Maple Syrup Urine Disease
  • MSUD

  • Bckd Deficiency

  • Branched-Chain Ketoaciduria

  • Branched-Chain Alpha-Keto Acid Dehydrogenase Deficiency

  • Keto Acid Decarboxylase Deficiency

  • Maple Syrup Urine Disease, Type Ii

  • Branched Chain Ketoaciduria

  • Classic Maple Syrup Urine Disease

  • Intermittent Maple Syrup Urine Disease

  • Maple Syrup Urine Disease, Type Ia

  • Ketoacidaemia

  • Bckdh Deficiency

  • Branched-Chain 2-Ketoacid Dehydrogenase Deficiency

  • Thiamine-Responsive Maple Syrup Urine Disease

  • Intermediate Maple Syrup Urine Disease

  • Maple Syrup Urine Disease Type 1a

  • Maple Syrup Urine Disease Type 1b

  • Maple Syrup Urine Disease Type 2

  • Maple Syrup Urine Disease, Type Ib

  • Dihydrolipoamide Dehydrogenase Deficiency

  • Branched-Chain Ketoacid Dehydrogenase Deficiency

  • Maple Syrup Disease

  • Ketoacidemia

  • Classic Bckd Deficiency

  • Classic Msud

  • Classic Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency

  • Classic Branched-Chain Ketoaciduria

  • Thiamine-Responsive Bckd Deficiency

  • Thiamine-Responsive Msud

  • Thiamine-Responsive Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency

  • Intermittent Bckd Deficiency

  • Intermittent Msud

  • Intermittent Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency

  • Maple Syrup Urine Disease 1a

  • MSUD1A

  • Maple Syrup Urine Disease Type Ia

  • Msud Type Ia

  • Maple Syrup Urine Disease 1b

  • MSUD1B

  • Maple Syrup Urine Disease Type Ib

  • Msud Type Ib

  • Maple Syrup Urine Disease 2

  • MSUD2

  • Maple Syrup Urine Disease Type Ii

  • Msud Type Ii

  • Nadh Cytochrome B5 Reductase Deficiency

  • Lactic Acidosis, Congenital Infantile, Due To Lad Deficiency

  • Ketonemia

  • Maple Syrup Urine Disease, Type 1b

  • Ketoacid Decarboxylase Deficiency

  • Oxoacid Decarboxylase Deficiency

  • Branched Chain Ketoacid Dehydrogenase Deficiency

  • Msud - [Maple-Syrup-Urine Disease]

  • Ketoaminoacidaemia

  • Bckd - [Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency]

  • Maple-Syrup-Urine Disorder

  • Maple-Syrup-Urine Syndrome

Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
  • Mcad Deficiency

  • Carnitine Deficiency Secondary To Medium-Chain Acyl-Coa Dehydrogenase Deficiency

  • Acadm Deficiency

  • Acyl-Coa Dehydrogenase, Medium Chain, Deficiency Of

  • Medium Chain Acyl-Coa Dehydrogenase Deficiency

  • ACADMD

  • Mcadh Deficiency

  • Mcadd

  • Medium Chain Acyl-Coenzyme A Dehydrogenase Deficiency

  • Acyl-Coa Dehydrogenase Medium-Chain Deficiency

  • Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency

  • Medium Chain Acyl Dehydrogenase Deficiency

Phenylketonuria
  • Phenylalanine Hydroxylase Deficiency

  • PKU

  • Pah Deficiency

  • Folling Disease

  • Maternal Phenylketonuria

  • Phenylketonurias

  • Oligophrenia Phenylpyruvica

  • Hyperphenylalaninemia, Non-Pku Mild

  • Folling'S Disease

  • Phenylalaninemia

  • Mild Phenylketonuria

  • Mild Pku

  • Variant Pku

  • Variant Phenylketonuria

  • Mpku

  • Deficiency Disease, Phenylalanine Hydroxylase

  • Phenylketonuria, Maternal

  • Phenylalanine Hydroxylase Deficiency Disease

  • Hyperphenylalaninemic Embryopathy

  • Maternal Pku

  • Maternal Hyperphenylalaninemia

  • Phenylketonuric Embryopathy

  • Hyperphenylalaninemia

  • HPA

  • Non-Phenylketonuria Hyperphenylalaninemia

  • NON-PKU HPA

  • Phenylketonuria Maternal

  • Classical Phenylketonuria

  • Hyperphenylalaninaemia

  • Pku - [Phenylketonuria]

3-Methylglutaconic Aciduria, Type Iii
  • Optic Atrophy

  • 3-Methylglutaconic Aciduria Type 3

  • Costeff Syndrome

  • Mga3

  • Costeff Optic Atrophy Syndrome

  • Optic Atrophy Plus Syndrome

  • Infantile Optic Atrophy With Chorea And Spastic Paraplegia

  • 3-Methylglutaconic Aciduria Type Iii

  • Autosomal Recessive Optic Atrophy Plus Syndrome

  • Autosomal Recessive Optic Atrophy Type 3

  • Opa3 Defect

  • MGCA3

  • Mga, Type Iii

  • Iraqi Jewish Optic Atrophy Plus

  • Mga Type Iii

  • Optic Atrophy, Infantile, With Chorea And Spastic Paraplegia

  • Iraqi-Jewish 'Optic Atrophy Plus'

  • Optic Atrophy 3, Autosomal Recessive

  • Opa3, Autosomal Recessive

  • Opa3-Related 3-Methylglutaconic Aciduria

  • Iraqi-Jewish Optic Atrophy Plus

  • Atrophy Of Optic Disc

  • 3-Alpha Methylglutaconic Aciduria Type Iii

  • Optic Atrophy 3

  • Optic Atrophy Infantile With Chorea And Spastic Paraplegia

  • Autosomal Recessive Opa3

  • Autosomal Recessive Optic Atrophy 3

  • 3-Methylglutaconic Aciduria 3

  • 3-Alpha-Methylglutaconic Aciduria Type 3

  • Optic Atrophy 3 Autosomal Recessive

  • Atrophy, Optic

  • Atrophy, Optic, Plus Syndrome

  • Optic Nerve Atrophy

  • Primary Optic Atrophy

  • Oa - [Optic Atrophy]

  • Second Cranial Nerve Atrophy

  • Second Cranium Nerve Atrophy

Tyrosinemia
  • Hypertyrosinemia

  • Tyrosinemias

  • Hereditary Tyrosinemia

  • Hypertyrosinaemia

  • Tyrosinaemia

  • Hereditary Hypertyrosinemia

Glycogen Storage Disease
  • Glycogenosis

  • Glycogenoses

  • Gsd

  • Storage Disease, Glycogen

  • Gsd - [Glycogen Storage Disease]

  • Glycogen Thesaurismosis

  • Diffuse Glycogenosis

  • Generalised Glycogen Storage Disease

  • Generalised Glycogenosis

  • Generalised Glycogen Storage Disease Of Infants

  • Glycogen Synthase Deficiency

Homocystinuria
  • Cystathionine Beta Synthase Deficiency

  • Homocysteinemia

  • Cbs Deficiency

  • Cystathionine Synthase Deficiency

  • Cystathionine Beta-Synthase Deficiency Disease

3-Methylcrotonyl-Coa Carboxylase Deficiency
  • 3-Methylcrotonylglycinuria

  • Mcc Deficiency

  • Methylcrotonyl-Coa Carboxylase Deficiency

  • Bmcc Deficiency

  • 3-Mcc Deficiency

  • 3mcc

  • Mccd

  • 3mcc Deficiency

  • Isolated 3-Methylcrotonyl-Coa Carboxylase Deficiency

  • 3-Mcc

  • 3-Methylcrotonyl-Coenzyme A Carboxylase Deficiency

  • Deficiency Of Methylcrotonoyl-Coa Carboxylase

  • 3-Methyl Crotonyl-Coa Carboxylase Deficiency

  • 3-Methylcrotonyl Coa Carboxylase 1 Deficiency

Lipoid Congenital Adrenal Hyperplasia
  • Congenital Adrenal Hyperplasia

  • Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency

  • Congenital Lipoid Adrenal Hyperplasia

  • Lipoid Cah

  • Lipoid Adrenal Hyperplasia

  • Adrenal Hyperplasia 1

  • Cah

  • Clah

  • LCAH

  • Adrenal Hyperplasia I

  • Lipoid Hyperplasia, Congenital, Of Adrenal Cortex With Male Pseudohermaphroditism

  • Congenital Adrenal Hyperplasia Lipoid

  • Adrenal Hyperplasia, Congenital

  • Congenital Adrenal Hyperplasia, Lipoid

  • AH1

  • Congenital Lipoid Hyperplasia Of Adrenal Cortex With Male Pseudohermaphroditism

  • Adrenal Hyperplasia Congenital

  • Hyperplasia, Adrenal, Lipoid, Congenital

  • Congenital Adrenogenital Disorders Associated With Enzyme Deficiency

  • Congenital Adrenal Cortical Hyperplasia

  • Congenital Adrenal Gland Hyperplasia

  • Congenital Adrenogenital Syndrome

  • Congenital Hyperadrenocorticism

  • Congenital Adrenogenitalism

  • Congenital Female Adrenal Pseudohermaphroditism

Optic Nerve Disease
  • Optic Neuropathy

  • Disorder Of The Second Nerve

  • Optic Nerve Disorder

  • Optic Nerve

  • Abnormality Of The Optic Nerve

  • Optic Nerve Disorders

  • Neuropathy, Optic

  • Disorder Of The Optic Nerve

Congenital Hypothyroidism
  • Cretinism

  • Neonatal Hypothyroidism

  • Ch

  • Cht

  • Congenital Myxedema

  • Myxedema, Congenital

  • Endemic Cretinism

  • Congenital Iodine-Deficiency Syndrome

  • Fetal Iodine Deficiency Syndrome

  • Congenital Iodine-Deficiency Hypothyroidism Nos

Mixed Cerebral Palsy
  • Cerebral Palsy, Mixed

Hemoglobinopathy
  • Hemoglobinopathies

Cerebral Creatine Deficiency Syndrome 2
  • Guanidinoacetate Methyltransferase Deficiency

  • Gamt Deficiency

  • Creatine Deficiency Syndrome Due To Gamt Deficiency

  • Deficiency Of Guanidinoacetate Methyltransferase

  • CCDS2

  • Guanidinoacetate Methyltransferase Deficiency

  • Deficiency, Cerebral Creatine, Syndrome, Type 2

  • Language Development Disorders

Thiamine Metabolism Dysfunction Syndrome 2
  • Biotin-Responsive Basal Ganglia Disease

  • Basal Ganglia Disease, Biotin-Responsive

  • THMD2

  • Bbgd

  • Btbgd

  • Encephalopathy, Thiamine-Responsive

  • Thiamine Metabolism Dysfunction Syndrome 2, Biotin- Or Thiamine-Responsive Type

  • Thiamine-Responsive Encephalopathy

Alopecia
Cerebral Creatine Deficiency Syndrome
  • Deficiency, Cerebral Creatine, Syndrome

Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
  • Pnpo Deficiency

  • Pyridoxamine 5'-Phosphate Oxidase Deficiency

  • Pnpo-Related Neonatal Epileptic Encephalopathy

  • Pyridoxal Phosphate-Responsive Seizures

  • Pyridoxal 5'-Phosphate-Dependent Epilepsy

  • Pyridoxine-5'-Phosphate Oxidase Deficiency

  • PNPOD

  • Seizures, Pyridoxine-Resistant, Plp-Sensitive

  • Pyridoxal Phosphate-Dependent Seizures

  • Pyridoxamine 5'-Oxidase Deficiency

  • Epileptic Encephalopathy, Neonatal, Pnpo-Related

  • Pyridox Ine 5'-Phosphate Oxidase Deficiency

  • Deficiency, Pyridoxamine 5'-Phosphate Oxidase

Sensorineural Hearing Loss
  • Sensory Hearing Loss

  • Sensorineural Deafness

  • Sensorineural Hearing Loss Disorder

  • Hearing Loss, Sensorineural

  • Central Hearing Loss

  • High Frequency Deafness

  • High Frequency Hearing Loss

  • High-Frequency Hearing Loss

  • Perceptive Deafness

  • Perceptive Hearing Loss

  • Perceptive Hearing Loss Or Deafness

  • Hearing Loss Sensorineural

  • Deafness Sensorineural

  • Hearing Loss High-Frequency

  • Hearing Loss, Central

  • Hearing Loss, High-Frequency

West Syndrome
  • Infantile Spasms

  • Infantile Spasms Syndrome

  • Infantile Spasm

  • X-Linked Infantile Spasm Syndrome

  • X-Linked Infantile Spasms

  • Epileptic Encephalopathy, Early Infantile, 1

  • Is

  • Tonic Spasms With Clustering, Arrest Of Psychomotor Development And Hypsarrhythmia On Eeg

  • West'S Syndrome

  • Spasms, Infantile

  • Is -[Infantile Spasm]

  • Salaam Spasm

  • Salaam Tic

Phosphoserine Aminotransferase Deficiency
  • Psat Deficiency

  • PSATD

  • Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form

  • Psat Deficiency, Infantile/Juvenile Form

  • Deficiency, Phosphoserine Aminotransferase

Cerebral Creatine Deficiency Syndrome 3
  • Arginine:Glycine Amidinotransferase Deficiency

  • Agat Deficiency

  • Gatm Deficiency

  • Creatine Deficiency Syndrome Due To Agat Deficiency

  • L-Arginine:Glycine Amidinotransferase Deficiency

  • CCDS3

  • L-Arginine:Glycine Aminidotransferase Deficiency

  • Deficiency, Cerebral Creatine, Syndrome, Type 3

Hypotonia
Epilepsy, Pyridoxine-Dependent
  • Pyridoxine-Dependent Epilepsy

  • PDE

  • Pyridoxine Dependency With Seizures

  • Vitamin B6-Dependent Seizures

  • EPD

  • Aasa Dehydrogenase Deficiency

  • Antiquitin Deficiency

  • Pyridoxine Dependency

  • Glutamate Decarboxylase Deficiency

  • Pyridoxine-Dependent Seizures

  • Deficiency Of Glutamate Decarboxylase

Molybdenum Cofactor Deficiency, Complementation Group A
  • MOCODA

  • Sulfite Oxidase Deficiency Due To Molybdenum Cofactor Deficiency Type A

  • Molybdenum Cofactor Deficiency A

  • Molybdenum Cofactor Deficiency Type A

  • Combined Deficiency Of Sulfite Oxidase, Xanthine Dehydrogenase And Aldehyde Oxidase Type A

  • Mocod Type A

  • Combined Deficiency Of Sulfite Oxidase, Xanthine Dehydrogenase, And Aldehyde Oxidase

  • Sulfite Oxidase, Xanthine Dehydrogenase, And Aldehyde Oxidase, Combined Deficiency Of

  • Molybdenum Cofactor Deficiency Complementation Group A

  • Molybdenum Cofactor Deficiency, Type A

  • Deficiency, Molybdenum Cofactor, Complementation Group A

Abdominal Obesity-Metabolic Syndrome 1
  • Metabolic Syndrome X

  • Metabolic Syndrome

  • AOMS1

  • Dysmetabolic Syndrome X

  • Metabolic Disease

  • Abdominal Obesity Metabolic Syndrome

Amino Acid Metabolic Disorder
  • Amino Acid Metabolism, Inborn Errors

  • Inborn Errors Of Amino Acid Metabolism

  • Disorder Of Amino Acid Metabolism

  • Amino Acid Metabolism Disorders

Glutaric Acidemia I
  • Glutaryl-Coa Dehydrogenase Deficiency

  • GA1

  • Glutaric Acidemia Type 1

  • Glutaric Aciduria 1

  • Glutaric Aciduria Type 1

  • Glutaric Acidemia Type I

  • Glutaric Aciduria, Type 1

  • Glutaric Aciduria I

  • Ga I

  • Glutaricaciduria, Type I

  • Glutaryl-Coenzyme A Dehydrogenase Deficiency

  • Glutaric Academia Type 1

  • Glutaric Aciduria Type I

  • Ga-1

  • Gcdh Deficiency

  • Ga 1

  • Glutaric Acidemia 1

  • Gcdhd

  • Glutaric Aciduria, Type I

  • Glutaricaciduria I

  • Ga-I

  • Glutaricaciduria, Type 1

Lactic Acidosis
  • Acidosis, Lactic

  • Acidosis Lactic

L-2-Hydroxyglutaric Aciduria
  • L-2-Hydroxyglutaric Acidemia

  • L2HGA

  • L-2-Hga

  • Aciduria, L-2-Hydroxyglutaric

  • Combined D-2- And L-2-Hydroxyglutaric Aciduria

Glycine Encephalopathy
  • Non-Ketotic Hyperglycinemia

  • Nonketotic Hyperglycinemia

  • NKH

  • GCE

  • Hyperglycinemia, Nonketotic

  • Hyperglycinemia Nonketotic

  • Infantile Glycine Encephalopathy

  • Encephalopathy, Glycine

  • Glycine Synthase Deficiency

  • Nka

  • Neonatal Glycine Encephalopathy

  • Classic Glycine Encephalopathy

  • Neonatal Nkh

  • Neonatal Non-Ketotic Hyperglycinemia

  • Infantile Nkh

  • Infantile Non-Ketotic Hyperglycinemia

  • Non-Ketotic Hyperglycinaemia

  • Glycine Cleavage Deficiency

  • Nonketotic Hyperglycinaemia

Propionic Acidemia
  • Ketotic Hyperglycinemia

  • Propionyl-Coa Carboxylase Deficiency

  • Pcc Deficiency

  • Propionicacidemia

  • Glycinemia, Ketotic

  • Hyperglycinemia With Ketoacidosis And Leukopenia

  • Ketotic Glycinemia

  • Propionic Aciduria

  • Prop

  • Acidemia, Propionic

  • PA-1

  • Ketotic Ii Glycinemia

  • Hyperglycinemia, Ketotic

  • Propionic Acidemia Type I

  • Propionic Acidemia Type Ii

  • PA-2

  • Propionicaciduria

Early Infantile Epileptic Encephalopathy
  • Early Infantile Epileptic Encephalopathy With Burst-Suppression

  • Early Infantile Epileptic Encephalopathy With Suppression Bursts

  • Eiee

  • Early Infantile Epileptic Encephalopathy With Suppression-Bursts

  • Ohtahara Syndrome

  • Encephalopathy, Epileptic, Early Infantile

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
Canis familiaris BTD VGNC VGNC:38556
Rattus norvegicus BTD RGD RGD:1305316
Mus musculus BTD MGD MGI:1347001
Felis catus BTD VGNC VGNC:60204
Bos taurus BTD VGNC VGNC:26594
Macaca mulatta BTD VGNC VGNC:70287
Others BTD NCBI