BSCL2 - BSCL2 lipid droplet biogenesis associated, seipin Gene

Also Known as HMN5; PELD; HMN5C; SPG17; GNG3LG

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 26580

About BSCL2

Cytogenetic location: 11q12.3 Genomic coordinates (GRCh38): 11:62,690,262-62,709,537 (from NCBI)

This gene has 47 transcripts (splice variants), 238 orthologues and is associated with 9 phenotypes. Broad expression in testis (RPKM 67.3), brain (RPKM 64.7) and 25 other tissues.

Summary

This gene encodes the multi-pass transmembrane protein protein seipin. This protein localizes to the endoplasmic reticulum and may be important for lipid droplet morphology. Mutations in this gene have been associated with congenital generalized lipodystrophy type 2 or Berardinelli-Seip syndrome, a rare autosomal recessive disease characterized by a near absence of adipose tissue and severe Insulin resistance. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. Naturally occurring read-through transcription occurs between this locus and the neighboring locus HNRNPUL2 (heterogeneous nuclear ribonucleoprotein U-like 2).[provided by RefSeq, Mar 2011]

BSCL2 Products (5)

mRNA	Protein	Name
NM_001122955.4	NP_001116427.1	seipin isoform 1
NM_001130702.2	NP_001124174.2	seipin isoform 3
NM_001386027.1	NP_001372956.1	seipin isoform 4
NM_001386028.1	NP_001372957.1	seipin isoform 1
NM_032667.6	NP_116056.3	seipin isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables phospholipid binding	IDA IDA: Inferred from direct assay	30293840	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	16189514	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in lipid droplet formation	IDA IDA: Inferred from direct assay	31178403	GOA
involved in lipid droplet formation	IMP IMP: Inferred from mutant phenotype	27564575	GOA
involved in lipid droplet organization	IMP IMP: Inferred from mutant phenotype	19278620	GOA
involved in lipid storage	IMP IMP: Inferred from mutant phenotype	19278620	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in endoplasmic reticulum membrane	IDA IDA: Inferred from direct assay	14981520	GOA
located in lipid droplet	IDA IDA: Inferred from direct assay	27879284	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

BSCL2 Protein Structure

Seipin

0
100
200
300
398 a.a.

Protein Preferred Names	Protein Names
seipin	BSCL2, seipin lipid droplet biogenesis associated

BSCL2 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	BSCL2	Q96G97	TMEM19	Homo sapiens	Q96HH6	Validated Y2H	25416956
Intra	BSCL2	Q96G97	TMEM19	Homo sapiens	Q96HH6	Y2H Array	25416956
Intra	BSCL2	Q96G97	TMEM19	Homo sapiens	Q96HH6	Y2H Pooling	16189514
Intra	BSCL2	Q96G97	SMIM3	Homo sapiens	Q9BZL3	Y2H Array	25416956
Intra	BSCL2	Q96G97	SMIM3	Homo sapiens	Q9BZL3	Validated Y2H	25416956
Intra	BSCL2	Q96G97	SMIM3	Homo sapiens	Q9BZL3	Y2H Pooling	16189514

Cross: Cross-species interaction Intra: Intraspecies interaction

BSCL2 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P811335	BSCL2 Antibody	WB, IHC-P	Human, Mouse

Related Diseases

Diseases	Alias
Spastic Paraplegia 17, Autosomal Dominant	Silver Syndrome SPG17 Silver Spastic Paraplegia Syndrome Spastic Paraplegia With Amyotrophy Of Hands And Feet Hereditary Spastic Paraplegia 17 Autosomal Dominant Spastic Paraplegia Type 17 Spastic Paraplegia 17 Spastic Paraplegia-Amyotrophy Of Hands And Feet Autosomal Dominant Spastic Paraplegia 17 Dhmn5b Distal Hereditary Motor Neuropathy Type 5b Paraplegia, Spastic, Autosomal Dominant, Type 17 Russell-Silver Syndrome Neuronopathy, Distal Hereditary Motor, Type Vb
Encephalopathy, Progressive, With Or Without Lipodystrophy	Severe Neurodegenerative Syndrome With Lipodystrophy PELD Severe Neurodegenerative Syndrome Due To Bscl2 Deficiency Encephalopathy, Progressive, With/Without Lipodystrophy
Lipodystrophy, Congenital Generalized, Type 2	Congenital Generalized Lipodystrophy Type 2 CGL2 Berardinelli-Seip Congenital Lipodystrophy Type 2 Berardinelli-Seip Syndrome Brunzell Syndrome Bscl2-Related Total Lipodystrophy And Acromegaloid Gigantism Berardinelli-Seip Congenital Lipodystrophy, Type 2 Seip Syndrome Berardinelli Syndrome Lipodystrophy, Total, And Acromegaloid Gigantism Lipoatrophic Diabetes, Congenital Lipodystrophy, Berardinelli-Seip Congenital, Type 2 Brunzell Syndrome, Bscl2-Related Congenital Lipoatrophic Diabetes Congenital Generalized Lipodystrophy 2 Lipoatrophic Diabetes Lipodystrophy Berardinelli Type Familial Generalized Lipodystrophy Lipoatrophic Diabetes Mellitus Familial Partial Lipodystrophy, Type 2
Neuronopathy, Distal Hereditary Motor, Type Vc	HMN5C Dhmn5c Neuronopathy, Distal Hereditary Motor, Type 5c Neuropathy, Distal Hereditary Motor, Type Vc Dhmn Vc Spinal Muscular Atrophy, Distal, Type Vc Dsmavc Neuronopathy, Distal Hereditary Motor, 5c Distal Hereditary Motor Neuronopathy Type Vc Distal Spinal Muscular Atrophy Type 5c Dsma5c Spinal Muscular Atrophy, Distal, Type 5c
Congenital Generalized Lipodystrophy	Berardinelli-Seip Congenital Lipodystrophy Berardinelli-Seip Syndrome Brunzell Syndrome Bscl Generalized Lipodystrophy Lipodystrophy, Congenital Generalized Seip Syndrome Total Lipodystrophy Cgl Lipoatrophic Diabetes Lipodystrophy, Generalized, Congenital Familial Generalized Lipodystrophy Congenital Generalized Lipodystrophy Type 2 Lipoatrophic Diabetes Mellitus Familial Partial Lipodystrophy, Type 2
Neuronopathy, Distal Hereditary Motor, Type Va	Dsmav Distal Hereditary Motor Neuropathy Type V Young Adult-Onset Distal Hereditary Motor Neuropathy Neuronopathy, Distal Hereditary Motor, Type V Distal Hereditary Motor Neuronopathy Type 5 Dhmn5 Distal Spinal Muscular Atrophy Type 5 HMN5A Hmn5 Dhmn5a Dhmn Va Dsmava Spinal Muscular Atrophy, Distal, With Upper Limb Predominance Distal Hmn V Autosomal Recessive Distal Spinal Muscular Atrophy Type 5 Dsma5 Young Adult-Onset Dhmn Dhmn-V Hmn V Neuronopathy, Distal Hereditary Motor, Type 5a Hmn 5a Neuropathy, Distal Hereditary Motor, Type Va Spinal Muscular Atrophy, Distal, Type Va Spinal Muscular Atrophy, Distal, Type V Distal Spinal Muscular Atrophy Type V Distal Spinal Muscular Atrophy With Upper Limb Predominance Distal Hereditary Motor Neuronopathy Type 5a Distal Hmn Va Distal Spinal Muscular Atrophy Type Va Distal Hereditary Motor Neuropathy, Type V Distal Hereditary Motor Neuronopathy, Type V Distal Spinal Muscular Atrophy, Type V Spinal Muscular Atrophy, Distal Type V Distal Hereditary Motor Neuropathy Type 5 Neuronopathy, Distal Hereditary Motor, 5a Dhmn V Distal Hereditary Motor Neuronopathy Type Va Distal Hereditary Motor Neuropathy Type Va Dsma-V Hmn Va Spinal Muscular Atrophy Distal Type V Spinal Muscular Atrophy Distal Type Va Spinal Muscular Atrophy Distal With Upper Limb Predominance Neuropathy, Distal Hereditary Motor, Type V Neuropathy, Motor, Distal, Hereditary, Type Va
Monogenic Diabetes
Charcot-Marie-Tooth Disease, Axonal, Type 2e	Charcot-Marie-Tooth Disease Type 2 CMT2E CMT2S CMT2Y Charcot-Marie-Tooth Disease Type 2e Charcot-Marie-Tooth Disease Type 2y Charcot-Marie-Tooth Disease Axonal Type 2s Charcot-Marie-Tooth Disease, Axonal, Type 2s Charcot-Marie-Tooth Disease, Type 2e Hereditary Motor And Sensory Neuropathy Type 2 Charcot-Marie-Tooth Neuropathy, Type 2s Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2s Charcot-Marie-Tooth Disease, Axonal, Type 2y Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2y Charcot-Marie-Tooth Neuropathy, Type 2y Charcot-Marie-Tooth Disease, Type 2y Autosomal Dominant Charcot-Marie-Tooth Disease Type 2e Charcot-Marie-Tooth Neuropathy Type 2e Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due To Vcp Mutation Cmt2 Due To Vcp Mutation Charcot-Marie-Tooth Disease Type 2s Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Autosomal Dominant Axonal Charcot-Marie-Tooth Disease Cmt2 Charcot-Marie-Tooth Neuropathy, Type 2e Hereditary Motor And Sensory Neuropathy Guadalajara Neuronal Type Hereditary Motor And Sensory Neuropathy Okinawa Type Autosomal Dominant Axonal Charcot-Marie-Tooth Type 2y Charcot-Marie-Tooth Neuropathy Type 2y Autosomal Recessive Axonal Charcot-Marie-Tooth Type 2s Charcot-Marie-Tooth Neuropathy Type 2s Charcot-Marie-Tooth Type 2 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2y Charcot-Marie-Tooth Disease 2e Charcot-Marie-Tooth Disease Axonal Type 2e Charcot-Marie-Tooth Disease Neuronal Type 2e Charcot-Marie-Tooth Disease 2s Charcot-Marie-Tooth Neuropathy Axonal Type 2s Charcot-Marie-Tooth Disease 2y Charcot-Marie-Tooth Disease, Type 2 Hereditary Motor And Sensory-Neuropathy Type Ii
Peripheral Nervous System Disease	Peripheral Neuropathy Peripheral Nerve Disease Peripheral Nerve Disorders Neuropathy, Peripheral Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation
Hereditary Spastic Paraplegia	Familial Spastic Paraplegia Hereditary Spastic Paraparesis Strumpell-Lorrain Disease Familial Spastic Paraparesis Hsp Spg Strümpell-Lorrain Disease Spastic Paraplegia, Hereditary French Settlement Disease Strumpell-Lorrain Syndrome Fsp Spastic Paraplegia, Familial Spastic Paraplegia Hereditary Spastic Paraplegia 3, Autosomal Dominant Spastic Paraparesis Hereditary Spastic Paralysis Familial Spastic Paralysis Hereditary Spastic Ataxia
Breast Cancer	Breast Carcinoma Male Breast Cancer Breast Cancer, Familial Malignant Neoplasm Of Breast Breast Cancer, Susceptibility To Breast Cancer, Early-Onset Malignant Tumor Of Breast Carcinoma Of Male Breast Breast Cancer, Invasive Ductal Breast Cancer, Protection Against Breast Cancer, Somatic Breast Cancer, Male Breast Cancer, Lobular, Somatic Breast Tumor Mammary Cancer Mammary Tumor Malignant Neoplasm Of Male Breast Mammary Carcinoma Male Breast Carcinoma Familial Cancer Of Breast Invasive Ductal Breast Carcinoma Breast Cancer Susceptibility Breast Cancer, Male, Susceptibility To Breast Cancer, Early-Onset, Susceptibility To Malignant Tumor Of The Breast Mammary Neoplasm Primary Breast Cancer Neoplasm Of Male Breast Carcinoma Of Breast Breast Cancer In Men Familial Breast Cancer Cancer Of Breast BC Breast Cancer Familial Breast Cancer Familial Male Breast Cancer, Familial Male Breast Male Carcinoma Breast Neoplasms Breast Neoplasms, Male Mammary Tumors Mammary Carcinomas Cancer, Breast Cancer, Breast, Susceptibility Invasive Breast Ductal Carcinoma Breast Neoplasm Susceptibility To Breast Cancer Mammary Neoplasms Animal Mammary Neoplasms Primary Malignant Neoplasm Of Breast Infiltrating Ductal Carcinoma Of Breast Infiltrating Duct Carcinoma Of Unspecified Site Infiltrating Ductular Carcinoma Of Unspecified Site Invasive Breast Carcinoma Of No Special Type Microinvasive Carcinoma Of Breast Carcinoma With Apocrine Differentiation
Berardinelli-Seip Congenital Lipodystrophy	Berardinelli-Seip Congenital Generalized Lipodystrophy Familial Generalized Lipodystrophy
Lipodystrophy, Familial Partial, Type 3	FPLD3 Pparg-Related Familial Partial Lipodystrophy Familial Partial Lipodystrophy Type 3 Familial Partial Lipodystrophy Associated With Pparg Mutations Pparg-Related Fpld Lipodystrophy, Familial Partial, Associated With Pparg Mutations Insulin Resistance, Severe, Digenic Lipodystrophy, Familial Partial, 3 Familial Partial Lipodystrophy, Type 3
Motor Neuron Disease	Anterior Horn Cell Disease Motor Neuron Diseases Mnd - [Motor Neurone Disease] Lou Gehrig Disease Creeping Palsy Creeping Paralysis Bulbar Motor Neuron Disease Bulbar Syndrome Anterior Horn Cell Disorder Hereditary Motor Neuron Disease
Complete Generalized Lipodystrophy
Lipodystrophy, Familial Partial, Type 2	FPLD2 Lipoatrophic Diabetes Familial Partial Lipodystrophy Type 2 Familial Partial Lipodystrophy, Dunnigan Type Fpl2 Lipoatrophic Diabetes Mellitus Lipodystrophy, Familial Partial, Dunnigan Type Lipodystrophy, Familial, Of Limbs And Lower Trunk Lipodystrophy, Reverse Partial Familial Partial Lipodystrophy Dunnigan Type Dunnigan Syndrome Familial Lipodystrophy Of Limbs And Lower Trunk Reverse Partial Lipodystrophy Lipodystrophy, Familial Partial, 2 Generalized Lipoatrophy Associated With Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy And Leukomelanodermic Papules Lipodystrophy Familial Of Limbs And Lower Trunk Lipodystrophy Reverse Partial Diabetes Mellitus, Lipoatrophic Familial Partial Lipodystrophy, Type 2 Familial Generalized Lipodystrophy
Paraplegia	Paraplegia, Lower Severe Or Complete Loss Of Motor Function In The Lower Extremities And Lower Portions Of The Trunk
Charcot-Marie-Tooth Disease	Cmt Hmsn Hereditary Motor And Sensory Neuropathy Pma Cmt - Charcot-Marie-Tooth Disease Charcot Marie Tooth Disease Charcot-Marie-Tooth Hereditary Neuropathy Charcot-Marie-Tooth Syndrome Peroneal Muscular Atrophy Hereditary Motor And Sensory Neuropathies
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Mdp Syndrome Mandibular Hypoplasia-Deafness-Progeroid Syndrome MDPL Mdpl Syndrome Mandibular Hypoplasia-Deafness-Progeroid Features-Lipodystrophy Syndrome Mandibular Hypoplasia-Hearing Loss-Progeroid Syndrome Lipodystrophy Mandibular Hypoplasia, Deafness, Progeroid Features Hypoplasia, Mandibular, Deafness, Progeroid Features, And Lipodystrophy Syndrome Andibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Familial Partial Lipodystrophy	Lipodystrophy, Familial Partial Fpld Kobberling-Dunnigan Syndrome Dunnigan Syndrome Koberling-Dunnigan Syndrome Dunnigan-Kobberling Syndrome Fpl Familial Partial Lipodystrophy, Type 2
Lipodystrophy, Congenital Generalized, Type 1	Congenital Generalized Lipodystrophy Type 1 Bscl1 CGL1 Berardinelli-Seip Congenital Lipodystrophy, Type 1 Brunzell Syndrome Agpat2-Related Berardinelli-Seip Congenital Lipodystrophy Type 1 Lipodystrophy, Berardinelli-Seip Congenital, Type 1 Brunzell Syndrome, Agpat2-Related Agpat2-Related Brunzell Syndrome Congenital Generalized Lipodystrophy 1 Berardinelli-Seip Syndrome Lipoatrophic Diabetes Lipodystrophy Berardinelli Type Total Lipodystrophy And Acromegaloid Gigantism Lipodystrophy, Generalized, Congenital, Type 1 Familial Generalized Lipodystrophy Lipoatrophic Diabetes Mellitus Familial Partial Lipodystrophy, Type 2
Acquired Generalized Lipodystrophy	Lawrence Syndrome Acquired Lipoatrophic Diabetes Lawrence-Seip Syndrome Familial Generalized Lipodystrophy
Motor Peripheral Neuropathy	Motor Neuritis Peripheral Motor Neuropathy Hereditary Motor And Sensory Neuropathy Hsmn Hsmn - Hereditary Sensory And Motor Neuropathy Neuropathic Muscular Atrophy Hereditary Sensory And Motor Neuropathy Hereditary Motor And Sensory Neuropathies
Neuropathy	Peripheral Neuropathy Peripheral Neuropathies
Lipodystrophy, Congenital Generalized, Type 3	Congenital Generalized Lipodystrophy Type 3 CGL3 Bscl3 Berardinelli-Seip Congenital Lipodystrophy Type 3 Berardinelli-Seip Congenital Lipodystrophy, Type 3 Lipodystrophy, Berardinelli-Seip Congenital, Type 3 Type 3 Berardinelli-Seip Congenital Lipodystrophy Congenital Generalized Lipodystrophy 3
Autosomal Dominant Distal Hereditary Motor Neuronopathy	Autosomal Dominant Distal Hereditary Motor Neuropathy Autosomal Dominant Dhmn Autosomal Dominant Distal Spinal Muscular Atrophy
Lipodystrophy, Congenital Generalized, Type 4	Congenital Generalized Lipodystrophy Type 4 CGL4 Berardinelli-Seip Congenital Lipodystrophy, Type 4, With Muscular Dystrophy Lipodystrophy, Berardinelli-Seip Congenital, Type 4, With Muscular Dystrophy Berardinelli-Seip Congenital Lipodystrophy Type 4 With Muscular Dystrophy Generalized Congenital Lipodystrophy With Myopathy Congenital Generalised Lipodystrophy Type 4 Generalised Congenital Lipodystrophy Type 4 Generalised Congenital Lipodystrophy With Myopathy Generalized Congenital Lipodystrophy Type 4 Gcl4 Congenital Generalized Lipodystrophy 4 Berardinelli-Seip Congenital Lipodystrophy Type 4
Spastic Paraplegia 20, Autosomal Recessive	Troyer Syndrome SPG20 Spastic Paraparesis, Childhood-Onset, With Distal Muscle Wasting Spastic Paraplegia, Autosomal Recessive, Troyer Type Autosomal Recessive Spastic Paraplegia Type 20 Autosomal Recessive Hereditary Spastic Paraplegia Spastic Paraplegia 20 Cross-Mckusick Syndrome Autosomal Recessive Spastic Paraplegia 20 Autosomal Recessive Spastic Paraplegia Troyer Type Childhood-Onset Spastic Paraparesis With Distal Muscle Wasting Hereditary Spastic Paraplegia 20 Spastic Paraplegia Type 20 Hereditary Spastic Paraplegia Childhood-Onset Spastic Paraparesis-Distal Muscle Wasting Syndrome Spastic Paraparesis Childhood-Onset With Distal Muscle Wasting Spastic Paraplegia Autosomal Recessive Troyer Type Trs Spastic Paraplegia Hereditary Autosomal Recessive Spastic Paraplegia, Hereditary
Spinal Muscular Atrophy	Sma 5q Sma Proximal Sma Sma-Associated Sma Spinal Amyotrophies Spinal Amyotrophy Spinal Muscle Degeneration Spinal Muscle Wasting Muscular Atrophy Spinal Atrophy, Muscular, Spinal Hereditary Motor Neuronopathy Progressive Muscular Atrophy Sma - [Spinal Muscular Atrophy]
Spastic Paraplegia 19, Autosomal Dominant	SPG19 Hereditary Spastic Paraplegia 19 Autosomal Dominant Spastic Paraplegia Type 19 Autosomal Dominant Spastic Paraplegia 19 Spastic Paraplegia 19 Spastic Paraplegia-19
Donohue Syndrome	Leprechaunism Leprechaunism Syndrome Donohue'S Syndrome LEPRCH
Spastic Paraplegia 62, Autosomal Recessive	SPG62 Hereditary Spastic Paraplegia 62 Autosomal Recessive Spastic Paraplegia Type 62 Spastic Paraplegia 62 Autosomal Recessive Spastic Paraplegia 62 Paraplegia, Spastic, Type 62
Pigmentation Disease	Pigmentation Disorders Skin Pigmentation Disorder
Brown-Vialetto-Van Laere Syndrome 2	BVVLS2 Rfvt3-Related Riboflavin Transporter Deficiency Rtd3 Riboflavin Transporter Deficiency 3 Brown-Vialetto-Van Laere Syndrome, Type 2
Spastic Paraplegia 73, Autosomal Dominant	SPG73 Hereditary Spastic Paraplegia 73 Autosomal Dominant Spastic Paraplegia Type 73 Autosomal Dominant Spastic Paraplegia 73 Paraplegia, Spastic, Autosomal Dominant, Type 73
Adiposis Dolorosa	Dercum Disease Dercum'S Disease Lipomatosis Dolorosa Adiposalgia Adipose Tissue Rheumatism Anders Syndrome Dercum-Vitaut Syndrome Morbus Dercum
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2	CMTX2 Charcot-Marie-Tooth Disease X-Linked Recessive 2 X-Linked Charcot-Marie-Tooth Disease Type 2 Charcot-Marie-Tooth Neuropathy, X-Linked Recessive, 2 Charcot-Marie-Tooth Neuropathy X-Linked Recessive 2 Charcot-Marie-Tooth Disease, X-Linked Type 2, Recessive
Charcot-Marie-Tooth Disease And Deafness	Charcot-Marie-Tooth Disease Type 1e CMT1E Charcot-Marie-Tooth Disease Type 1 Hereditary Motor And Sensory Neuropathy Type 1 Charcot-Marie-Tooth Disease, Demyelinating, Type 1e Charcot-Marie-Tooth Disease, Type I Charcot-Marie-Tooth Neuropathy And Deafness, Autosomal Dominant Charcot-Marie-Tooth Disease, Type 1e Charcot-Marie-Tooth Disease Demyelinating Type 1e Autosomal Dominant Demyelinating Charcot-Marie-Tooth Disease Cmt1 Charcot-Marie-Tooth Neuropathy Type 1 Autosomal Dominant Charcot-Marie-Tooth Neuropathy And Deafness Charcot-Marie-Tooth Disease-Deafness Charcot-Marie-Tooth Type 1 Hmsn1 Hereditary Motor And Sensory Neuropathy 1 Cmt 1e Charcot Marie Tooth Disease Type 1e Charcot-Marie-Tooth Disease-Deafness Syndrome Charcot-Marie-Tooth Disease-Hearing Loss Syndrome Charcot-Marie-Tooth Disease 1e Charcot-Marie-Tooth Disease And Deafness Autosomal Dominant Charcot-Marie-Tooth Neuropathy Type 1e Charcot-Marie-Tooth Disease, Type Ie Hereditary Motor And Sensory Neuropathy Type I
Charcot-Marie-Tooth Disease, Axonal, Type 2l	Charcot-Marie-Tooth Disease Axonal Type 2l CMT2L Autosomal Dominant Charcot-Marie-Tooth Disease Type 2l Charcot-Marie-Tooth Neuropathy, Axonal, Type 2l Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2l Autosomal Dominant Axonal Charcot-Marie-Tooth Disease Type 2l Charcot-Marie-Tooth Neuropathy Axonal Type 2l Charcot-Marie-Tooth Disease 2l Charcot-Marie-Tooth Disease Axonal Autosomal Dominant Type 2l Charcot-Marie-Tooth Disease Neuronal Type 2l Charcot-Marie-Tooth Neuropathy Type 2l Charcot-Marie-Tooth Disease, Type 2l Charcot-Marie-Tooth Disease, Type 2i
Muscular Atrophy	Muscle Wasting Amyotrophia Wasting - Muscle Skeletal Muscle Atrophy
Charcot-Marie-Tooth Disease, Axonal, Type 2f	Charcot-Marie-Tooth Disease Axonal Type 2f CMT2F Charcot-Marie-Tooth Disease, Neuronal, Type 2f Charcot-Marie-Tooth Neuropathy, Type 2f Autosomal Dominant Charcot-Marie-Tooth Disease Type 2f Charcot-Marie-Tooth Neuropathy Type 2f Charcot-Marie-Tooth Neuronal Type 2f Charcot-Marie-Tooth Disease Type 2f Cmt 2f Charcot Marie Tooth Disease Type 2f Charcot-Marie-Tooth Disease 2f Charcot-Marie-Tooth Disease Neuronal Type 2f Charcot-Marie-Tooth Disease, Type 2f
Charcot-Marie-Tooth Disease, Axonal, Type 2d	Charcot-Marie-Tooth Disease Type 2d CMT2D Charcot-Marie-Tooth Disease, Type 2d Autosomal Dominant Charcot-Marie-Tooth Disease Type 2d Charcot-Marie-Tooth Disease Neuronal Type 2d Charcot-Marie-Tooth Neuropathy Type 2d Charcot-Marie-Tooth Disease, Neuronal, Type 2d Charcot-Marie-Tooth Neuropathy, Type 2d Charcot-Marie-Tooth Disease 2d Charcot-Marie-Tooth Disease Axonal Type 2d
Masa Syndrome	L1 Syndrome Crash Syndrome X-Linked Hydrocephalus Syndrome SPG1 Gareis-Mason Syndrome Spastic Paraplegia 1, X-Linked Corpus Callosum Hypoplasia-Retardation-Adducted Thumbs-Spasticity-Hydrocephalus Syndrome L1cam Syndrome Spastic Paraplegia 1 Mental Retardation, Aphasia, Shuffling Gait, And Adducted Thumbs Clasped Thumb And Mental Retardation Thumb, Congenital Clasped, With Mental Retardation Adducted Thumb With Mental Retardation Hereditary Spastic Paraplegia 1 X-Linked Complicated Hereditary Spastic Paraplegia Type 1 X-Linked Corpus Callosum Agenesis X-Linked Spastic Paraplegia 1 L1 Disease X-Linked Intellectual Disability - Corpus Callosum Agenesis - Spastic Quadriparesis Adducted Thumb With Intellectual Disability Clasped Thumb And Intellectual Disability Intellectual Disability Aphasia Shuffling Gait Adducted Thumbs Thumb Congenital Clasped With Intellectual Disability X-Linked Intellectual Disability-Corpus Callosum Agenesis-Spastic Quadriparesis Syndrome Adducted Thumbs-Mental Retardation Syndrome Corpus Callosum Hypoplasia, Mental Retardation, Adducted Thumbs, Spastic Paraplegia, Hydrocephalus Syndrome Mental Retardation-Clasped Thumb Syndrome Intellectual Disability-Aphasia-Shuffling Gait-Adducted Thumbs Syndrome Spastic Paraplegia Type 1, X-Linked MASA Corpus Callosum Hypoplasia-Psychomotor Retardation, Adducted Thumbs-Spastic Paraparesis-Hydrocephalus Crash Masa Syndrome
Spastic Paraplegia 41, Autosomal Dominant	SPG41 Hereditary Spastic Paraplegia 41 Autosomal Dominant Spastic Paraplegia Type 41 Autosomal Dominant Spastic Paraplegia 41
Spastic Paraplegia 42, Autosomal Dominant	SPG42 Hereditary Spastic Paraplegia 42 Autosomal Dominant Spastic Paraplegia Type 42 Autosomal Dominant Spastic Paraplegia 42 Paraplegia, Spastic, Type 42, Autosomal Dominant
Diabetes Mellitus	Diabetes
Spastic Paraplegia 10, Autosomal Dominant	SPG10 Hereditary Spastic Paraplegia 10 Autosomal Dominant Spastic Paraplegia Type 10 Spastic Paraplegia 10 Spastic Paraplegia 10 With Or Without Peripheral Neuropathy Autosomal Dominant Spastic Paraplegia 10 Autosomal Dominant Spastic Paraplegia Spastic Paraplegia, Autosomal Dominant Paraplegia, Spastic, Autosomal Dominant, Type 10
Neuropathy, Hereditary Sensory And Autonomic, Type Iia	Hereditary Sensory And Autonomic Neuropathy Type 2 Hsan2 HSAN2A Morvan Disease Hereditary Sensory And Autonomic Neuropathy Type Ii Neurogenic Acroosteolysis Hsan Iia Hsn2a Hsn Iia Neuropathy, Progressive Sensory, Of Children Neuropathy, Congenital Sensory Neuropathy, Hereditary Sensory And Autonomic, Type Ii Hereditary Sensory And Autonomic Neuropathy Type 2a Hereditary Sensory And Autonomic Neuropathy Type Iia Hsanii Congenital Sensory Neuropathy Hsan Type Ii Morvan Syndrome Neuropathy, Hereditary Sensory And Autonomic, Type 2a Morvan'S Disease Neuropathy, Hereditary Sensory, Type Iia Acroosteolysis, Neurogenic Acroosteolysis, Giaccai Type Neuropathy, Hereditary Sensory Radicular, Autosomal Recessive Hereditary Sensory Autonomic Neuropathy Type 2 Giaccai Type Acroosteolysis Hereditary Sensory Neuropathy Type 2 Hereditary Sensory Radicular Neuropathy, Recessive Form Hsan2b Hsan2c Hsan2d Hsn Type Ii Autosomal Recessive Sensory Radicular Neuropathy Limbic Encephalitis-Neuromyotonia-Hyperhidrosis-Polyneuropathy Syndrome Morvan Fibrillary Chorea Neuropathy, Hereditary Sensory And Autonomic, 2a Acroosteolysis Giaccai Type Hereditary Sensory Neuropathy Type Iia Hereditary Sensory Radicular Neuropathy Autosomal Recessive Progressive Sensory Neuropathy Of Children Neuropathy Congenital Sensory Charcot-Marie-Tooth Disease Neuropathy, Sensory And Autonomic, Hereditary, Type Iia Hereditary Sensory Autonomic Neuropathy, Type 2 Hereditary Motor And Sensory-Neuropathy Type Ii Sensory Neuropathy, Hereditary Neuropathy, Hereditary Sensory And Autonomic, Type Iib
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive	Charcot-Marie-Tooth Disease Type 4 Charcot-Marie-Tooth Disease Type 4e Hereditary Motor And Sensory Neuropathy Cmt4e CHN1 Hypomyelinating Neuropathy, Congenital, 1 Charcot-Marie-Tooth Neuropathy Type 4e Neuropathy, Congenital Hypomyelinating, 1 Ar-Cmt1 Autosomal Recessive Demyelinating Charcot-Marie-Tooth Cmt4 Neuropathy, Congenital Hypomyelinating Or Amyelinating, Autosomal Recessive Hypomyelination, Severe Congenital Charcot-Marie-Tooth Disease, Type 4e Charcot-Marie-Tooth Neuropathy, Type 4e Autosomal Recessive Congenital Hypomyelinating Or Amyelinating Neuropathy Autosomal Recessive Congenital Hypomyelinating Neuropathy Congenital Amyelinating Neuropathy Congenital Hypomyelinating Neuropathy Autosomal Recessive Neuropathy, Congenital Hypomyelinating Or Amyelinating Severe Congenital Hypomyelination Hereditary Sensory Motor Neuropathy Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive Neuropathy, Hypomyelinating, Congenital, Type 1 Neuropathy, Motor And Sensory, Hereditary Congenital Hypomyelinating Neuropathy Hereditary Motor And Sensory Neuropathies Hereditary Sensorimotor Neuropathy Hmsn - [Hereditary Motor And Sensory Neuropathy] Hsmn - [Hereditary Sensory And Motor Neuropathy] Hereditary Motor And Sensory Neuropathy, Types I-Iv
Distal Hereditary Motor Neuronopathy Type 2	Distal Hereditary Motor Neuropathy, Type Ii Distal Hereditary Motor Neuropathy Type 2 Distal Hereditary Motor Neuropathy Type Ii Hmn Ii Hmn2 Distal Hereditary Motor Neuronopathy, Type Ii Distal Spinal Muscular Atrophy Type 2 Dhmn2 Dsma2 Neuropathy, Motor, Distal, Hereditary, Type Ii Spinal Muscular Atrophy, Jerash Type
Spasticity
Umbilical Hernia	Hernia, Umbilical
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
Hypertrichosis
Neuromuscular Disease	Neuromuscular Diseases Neuromuscular Disorders Neuromuscular Disorder
Hypertrophic Cardiomyopathy	Hypertrophic Obstructive Cardiomyopathy Cardiomyopathy, Hypertrophic Cardiomyopathy Hypertrophic Obstructive Cardiomyopathy, Hypertrophic, Familial Idiopathic Myocardial Hypertrophy Idiopathic Hypertrophic Cardiomyopathy Obstructive Idiopathic Hypertrophic Cardiomyopathy Obstructive Cardiomyopathy Idiopathic Hypertrophic Subaortic Stenosis Muscular Subaortic Stenosis Hypertrophic Obstructive Subaortic Stenosis

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-RS01641	BSCL2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	BSCL2	VGNC	VGNC:38538
Macaca mulatta	BSCL2	VGNC	VGNC:99553
Felis catus	BSCL2	VGNC	VGNC:81908
Rattus norvegicus	BSCL2	RGD	RGD:1308135
Bos taurus	BSCL2	VGNC	VGNC:26577
Mus musculus	BSCL2	MGD	MGI:1298392
Others	BSCL2	NCBI