KBTBD13 - kelch repeat and BTB domain containing 13 Gene

Homo sapiens

Also known as NEM6; HCG1645727

Gene ID: 390594 | Gene type: protein coding

About KBTBD13

Cytogenetic location: 15q22.31 Genomic coordinates (GRCh38): 15:65,076,746-65,079,948 (from NCBI)

This gene has 1 transcript (splice variant), 238 orthologues, 54 paralogues and is associated with 3 phenotypes.

Summary

The gene belongs to a family of genes encoding proteins containing a BTB domain and several kelch repeats. The BTB domain functions as a protein-protein interaction module, which includes an ability to self-associate or to interact with non-BTB domain-containing proteins. The kelch motif typically occurs in groups of five to seven repeats, and has been found in proteins with diverse functions. Known functions of these family members include transcription regulation, ion channel tetramerization and gating, protein ubiquitination or degradation, and Cytoskeleton regulation. The exact function of this family member has yet to be determined. [provided by RefSeq, Jun 2010]

KBTBD13 Products(1)

mRNA	Protein	Name
NM_001101362.3	NP_001094832.1	kelch repeat and BTB domain-containing protein 13

KBTBD13 Protein Structure

BTB

Kelch_1

0
100
200
300
400
458 a.a.

Protein Preferred Names

Protein Names

kelch repeat and BTB domain-containing protein 13

kelch repeat and BTB (POZ) domain containing 13

Related Diseases

Diseases

Alias

Nemaline Myopathy 6

NEM6	Nemaline Myopathy 6, Autosomal Dominant
Myopathy, Nemaline, Type 6

Childhood-Onset Nemaline Myopathy

Mild Nemaline Myopathy

Nemaline Myopathy, Childhood Onset

Congenital Structural Myopathy

Rhabdomyolysis-Myalgia Syndrome

Myopathy

Muscular Diseases

Myopathies

Cardiomyopathy, Dilated, 2a

Dilated Cardiomyopathy 2a	CMD2A
Cardiomyopathy, Dilated, Autosomal Recessive	Cardiomyopathy, Congestive, Autosomal Recessive
Cardiomyopathy, Dilated 2a	Cardiomyopathy, Dilated, Type 2a
Autosomal Recessive Dilated Cardiomyopathy

Nemaline Myopathy 8

NEM8	Nemaline Myopathy 8, Autosomal Recessive
Myopathy, Nemaline, Type 8

Cardiomyopathy, Dilated, 1ff

Dilated Cardiomyopathy 1ff	CMD1FF
Cardiomyopathy, Dilated 1ff	Cardiomyopathy, Dilated, Type 1ff

Nemaline Myopathy 10

NEM10

Myopathy, Nemaline, Type 10

Nemaline Myopathy 2

NEM2	Nemaline Myopathy 2, Autosomal Recessive
Nemaline Myopathy, Type 2	Neb-Related Nemaline Myopathy
Myopathy, Nemaline, Type 2

Nemaline Myopathy 5

Amish Nemaline Myopathy	NEM5
Anm	Nemaline Myopathy, Amish Type
Nemaline Myopathy 5, Amish Type	Nemaline Myopathy, Caused By Mutation In The Troponin T1 Gene
Nemaline Myopathy, Type 5	Nemaline Myopathy Amish Type
Tnnt1-Related Nemaline Myopathy	Myopathy, Nemaline, Type 5

Congenital Muscular Dystrophy-Dystroglycanopathy Type A10

Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies Type A10	Mddga10
Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease, Tmem5-Related

Nemaline Myopathy 9

NEM9	Myopathy, Nemaline, Type 9

Multiminicore Disease

Multiminicore Myopathy	Mmd
Minicore Disease	Minicore Myopathy
Multi-Core Congenital Myopathy	Multi-Core Disease
Multi-Minicore Disease	Multicore Disease
Multicore Myopathy	Minicore Myopathy With External Ophthalmoplegia

Atrophic Muscular Disease

Muscular Disorders, Atrophic

Congenital Muscular Dystrophy-Dystroglycanopathy A14

Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies Type A14	Mddga14
Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease Gmppb-Related	Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies Type A 14

Brody Disease

Brody Myopathy	BROD
Sarcoplasmic Reticulum -Ca2+Atpase Deficiency	Myopathy, Brody

Congenital Fiber-Type Disproportion

Congenital Fiber Type Disproportion	Cftdm
Congenital Myopathy With Fiber Type Disproportion	Cftd
Congenital Fiber-Type Disproportion Myopathy	Fiber-Type Disproportion Myopathy, Congenital
Myopathy, Congenital With Fiber-Type Disproportion

Batten-Turner Congenital Myopathy

Congenital Myopathy	Batten Turner Congenital Myopathy
Myopathy Congenital	Myopathy, Congenital
Myotonia Congenita	Benign Congenital Myopathy

King-Denborough Syndrome

King Denborough Syndrome	King Syndrome
Kousseff Nichols Syndrome	KDS
Noonan Like Contracture Myopathy Hyperpyrexia	Anesthetic-Induced Malignant Hyperpyrexia In Children
Koussef-Nichols Syndrome

Central Core Disease Of Muscle

Central Core Disease	Central Core Myopathy
CCD	Cco
Neuromuscular Disease, Congenital, With Uniform Type 1 Fiber	Myopathy, Central Core
Shy-Magee Syndrome	Muscle Core Disease
Muscular Central Core Disease	Myopathy, Central Fibrillar
Shy'S Disease	Moderate Multiminicore Disease With Hand Involvement

Myopathy, Distal, 1

Laing Distal Myopathy	Laing Early-Onset Distal Myopathy
MPD1	Distal Myopathy 1
Myopathy, Distal, Early-Onset, Autosomal Dominant	Distal Myopathy Type 1
Gowers Disease	Myopathy, Late Distal Hereditary
Myopathy Distal, Type 1	Myopathy Distal Early-Onset Autosomal Dominant
Myopathy Late Distal Hereditary	Myopathy, Distal, Type 1
Welander Distal Myopathy

X-Linked Cerebellar Ataxia

Centronuclear Myopathy

Myopathy, Centronuclear	Myotubular Myopathy
Cnm	Myopathy, Myotubular
Congenital Structural Myopathy

Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome

Jacobs Syndrome	Arthropathy-Camptodactyly Syndrome
Pericarditis-Arthropathy-Camptodactyly Syndrome	Xyy Syndrome
Pac Syndrome	Cacp Syndrome
CACP	Fibrosing Serositis, Familial
Camptodactyly-Arthropathy-Pericarditis Syndrome	Cap Syndrome
47, Xyy Syndrome	47,Xyy Syndrome
Double Y Syndrome	Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome
Hypertrophic Synovitis, Congenital Familial	Congenital Familial Hypertrophic Synovitis
Xyy Karyotype	Y Disomy
Yy Syndrome	Familial Fibrosing Serositis
Disomy Y	Double Y
Camptodactyly Arthropathy Coxa Vara Pericarditis Syndrome	Arthropathy Camptodactyly Syndrome
Camptodactyly Arthropathy Pericarditis Syndrome	Pericarditis Arthropathy Camptodactyly Syndrome
Jacob'S Syndrome	47,Xyy
Cdags Syndrome

Distal Arthrogryposis

Arthrogryposis Multiplex Congenita	Arthrogryposis
Congenital Multiple Arthrogryposis	Congenital Arthromyodysplasia
Fibrous Ankylosis Of Multiple Joints	Guerin-Stern Syndrome
Guérin-Stern Syndrome	Myodystrophia Fetalis Deformans
Otto Syndrome	Rocher-Sheldon Syndrome
Rossi Syndrome	Amc
Multiple Congenital Arthrogryposis	Arthrogryposis Syndrome
Arthrogryposis, Distal	Distal Arthrogryposis Syndrome
Freeman-Sheldon Syndrome	Arthrogryposis, Distal, Type 2b
Congenital Multiplex Arthrogryposis	Amyoplasia Congenita
Congenital Amyoplasia	Amc - [Arthrogryposis Multiplex Congenita]

Malignant Hyperthermia

Anesthesia Related Hyperthermia	Malignant Hyperpyrexia Due To Anesthesia
Hyperpyrexia, Malignant	Hyperthermia, Malignant
Malignant Hyperpyrexia	Mhs
Malignant Fever

Congenital Myasthenic Syndrome

Congenital Myasthenia	Congenital Myasthenic Syndromes
Cms	Myasthenic Syndromes, Congenital
Myasthenic Syndromes Congenital	Myasthenic Syndrome, Congenital
Congenital Myasthenic Syndrome Ib	Congenital And Developmental Myasthenia
Developmental Myasthenia

Neuromuscular Disease

Neuromuscular Diseases	Neuromuscular Disorders
Neuromuscular Disorder

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS07092	KBTBD13 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	KBTBD13	VGNC	VGNC:73953
Felis catus	KBTBD13	VGNC	VGNC:63031
Rattus norvegicus	KBTBD13	RGD	RGD:1311093
Bos taurus	KBTBD13	VGNC	VGNC:30414
Mus musculus	KBTBD13	MGD	MGI:1921742

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