GLDN - gliomedin Gene

Also Known as CLOM; COLM; CRGL2; CRG-L2; LCCS11; UNC-112; UNC-122

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 342035

About GLDN

Cytogenetic location: 15q21.2 Genomic coordinates (GRCh38): 15:51,341,655-51,413,365 (from NCBI)

This gene has 10 transcripts (splice variants), 250 orthologues, 9 paralogues and is associated with 2 phenotypes. Biased expression in brain (RPKM 4.5), fat (RPKM 3.3) and 12 other tissues.

Summary

This gene encodes a protein that contains olfactomedin-like and collagen-like domains. The encoded protein, which exists in both transmembrane and secreted forms, promotes formation of the nodes of Ranvier in the peripheral nervous system. Mutations in this gene cause a form of lethal congenital contracture syndrome in human patients. Autoantibodies to the encoded protein have been identified in sera form patients with multifocal motor neuropathy. [provided by RefSeq, May 2017]

GLDN Products (2)

mRNA	Protein	Name
NM_001330297.2	NP_001317226.1	gliomedin isoform 2
NM_181789.4	NP_861454.2	gliomedin isoform 1 precursor

Gene Ontology

Cellular Component

Cellular Component GO Annotation	Evidence	References	Source
located in cell surface	IDA IDA: Inferred from direct assay	27616481	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

GLDN Protein Structure

Collagen

OLF

0
100
200
300
400
500
551 a.a.

Protein Preferred Names	Protein Names
gliomedin	collomin

Recombinant GLDN Proteins

Cat. No.	Product Name	Accession	Purity
HY-P76363A	Gliomedin Protein, Human (HEK293, N-hFc)	Q6ZMI3-2 (M1-Q427)	≥ 90%, as determined by reducing SDS-PAGE.

Related Diseases

Diseases	Alias
Lethal Congenital Contracture Syndrome 11	LCCS11 Lethal Congenital Contracture Arthrogryposis-11
Polyhydramnios
Lethal Congenital Contracture Syndrome	Lccs Lethal Congenital Contracture Syndrome 1
Multifocal Motor Neuropathy	Mmn Mmncb Multifocal Motor Neuropathy With Conduction Block
Congenital Contractures	Congenital Contracture
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]
Fetal Akinesia Deformation Sequence 1	Fetal Akinesia Deformation Sequence Fads Fetal Akinesia Sequence FADS1 Arthrogryposis Multiplex Congenita With Pulmonary Hypoplasia Pena-Shokeir Syndrome Type 1 Fetal Akinesia Deformation Sequence Syndrome Arthrogryposis Multiplex Congenita-Pulmonary Hypoplasia Syndrome Arthrogryposis Multiplex Congenita Pulmonary Hypoplasia Pena-Shokeir Syndrome, Type I Foetal Akinesia Deformation Sequence Syndrome Foetal Akinesia Sequence Fetal Akinesia Deformation Sequence Syndrome 1 Pena-Shokeir Syndrome, Type 1 Pena Shokeir Syndrome, Type 1 Akinesia, Fetal, Deformation Sequence Akinesia, Fetal, Deformation Sequence, Type 1 Pena-Shokeir Syndrome Type I
Autoimmune Neuropathy
Lethal Congenital Contracture Syndrome 2	LCCS2 Lethal Congenital Contractural Syndrome 2 Multiple Contracture Syndrome, Israeli-Bedouin Type Multiple Contracture Syndrome, Israeli Bedouin Type A Multiple Contracture Syndrome, Israeli Bedouin Type Lethal Congenital Contracture Syndrome Type 2 Israeli Bedouin Multiple Contracture Syndrome Type A Contracture Syndrome, Lethal, Congenital, Type 2
Demyelinating Polyneuropathy	Peripheral Demyelinating Neuropathy Demyelinating Peripheral Neuropathy
Arthrogryposis, Distal, Type 5	Oculomelic Amyoplasia Distal Arthrogryposis Type 5 Distal Arthrogryposis Type Iib DA5 Arthrogryposis With Oculomotor Limitation And Electroretinal Abnormalities Daiib Distal Arthrogryposis Type 2b Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome Distal Arthrogryposis With Ophthalmoplegia Arthrogryposis- Oculomotor Limitation-Electroretinal Anomalies Syndrome Arthrogryposis, Distal, Type Iib Da2b Freeman-Sheldon Syndrome Variant Sheldon-Hall Syndrome Arthogryposis With Oculomotor Limitation And Electroretinal Abnormalities Arthrogryposis Ophthalmoplegia Retinopathy Arthrogryposis, Distal, 5 Arthrogryposis, Distal, Type 2b
Chronic Inflammatory Demyelinating Polyradiculoneuropathy	Chronic Inflammatory Demyelinating Polyneuropathy Cidp Polyradiculoneuropathy Chronic Inflammatory Demyelinating Polyradiculoneuropathy, Chronic Inflammatory Demyelinating
Hypotrichosis 8	HYPT8 Lah3 Hypotrichosis, Localized, Autosomal Recessive 3 Woolly Hair, Autosomal Recessive 1, With Or Without Hypotrichosis Autosomal Recessive Woolly Hair 1, With Or Without Hypotrichosis Hypotrichosis Localized Autosomal Recessive 3 Woolly Hair Autosomal Recessive 1 With Or Without Hypotrichosis ARWH1 Hypotrichosis, Type 8
Multiple Pterygium Syndrome, Escobar Variant	Multiple Pterygium Syndrome Pterygium Escobar Syndrome EVMPS Pterygium Syndrome Autosomal Recessive Multiple Pterygium Syndrome Pterygium Colli Syndrome Pterygium Universale Autosomal Recessive Non-Lethal Multiple Pterygium Syndrome Escobar Variant Multiple Pterygium Syndrome Multiple Pterygium Syndrome, Nonlethal Type Surfer'S Eye Multiple Pterygium Syndrome Escobar Type Multiple Pterygium Syndrome Nonlethal Type Familial Pterygium Syndrome Pterygium Colli Multiple Pterygium Syndrome, Non-Lethal Type Nonlethal Type Multiple Pterygium Syndrome Pterygium Syndrome, Multiple, Escobar Type Pterygium Of Eye Web Eye
Polyradiculopathy
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
Aromatase Excess Syndrome	AEXS Increased Aromatase Activity Familial Hyperestrogenism Hereditary Prepubertal Gynecomastia Aromatase Activity, Increased Familial Gynecomastia Due To Increased Aromatase Activity Hereditary Gynecomastia Gynecomastia, Familial Familial Gynecomastia

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 (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS05469	GLDN Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS22186	Gldn Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS28708	Gldn Rat Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	GLDN	MGD	MGI:2388361
Macaca mulatta	GLDN	VGNC	VGNC:73032
Rattus norvegicus	GLDN	RGD	RGD:727879
Canis familiaris	GLDN	VGNC	VGNC:41253
Felis catus	GLDN	VGNC	VGNC:62575
Bos taurus	GLDN	VGNC	VGNC:29396
Others	GLDN	NCBI