COL10A1 - collagen type X alpha 1 chain Gene

Homo sapiens

Gene ID: 1300 | Gene type: protein coding

About COL10A1

Cytogenetic location: 6q22.1 Genomic coordinates (GRCh38): 6:116,118,909-116,217,129 (from NCBI)

This gene has 5 transcripts (splice variants), 222 orthologues, 23 paralogues and is associated with 3 phenotypes. Low expression observed in reference dataset.

Summary

This gene encodes the alpha chain of type X collagen, a short chain collagen expressed by hypertrophic chondrocytes during endochondral ossification. Unlike type VIII collagen, the other short chain collagen, type X collagen is a homotrimer. Mutations in this gene are associated with Schmid type metaphyseal chondrodysplasia (SMCD) and Japanese type spondylometaphyseal dysplasia (SMD). [provided by RefSeq, Jul 2008]

COL10A1 Products(1)

mRNA	Protein	Name
NM_000493.4	NP_000484.2	collagen alpha-1(X) chain precursor

COL10A1 Protein Structure

Collagen

C1q

0
200
400
600
680 a.a.

Protein Preferred Names

Protein Names

collagen alpha-1(X) chain

Schmid metaphyseal chondrodysplasia

Related Diseases

Diseases

Alias

Metaphyseal Chondrodysplasia, Schmid Type

MCDS	Schmid Metaphyseal Chondrodysplasia
Metaphyseal Chondrodysplasia Schmid Type	Spondylometaphyseal Dysplasia, Japanese Type
Japanese Type Spondylometaphyseal Dysplasia	Schmid Type Metaphyseal Dysplasia
Metaphyseal Chondrodysplasia Type Schmid	Schmid Type Metaphyseal Chondrodysplasia
SMCD	Chondrodysplasia, Metaphyseal, Schmid Type
Corneal Dystrophy, Subepithelial Mucinous

Cartilage Disease

Cartilage Diseases	Cartilage
Cartilage Disorder	Chondropathy
Cartilage Disorders

Cartilage-Hair Hypoplasia

Metaphyseal Chondrodysplasia, Mckusick Type	CHH
Mckusick Type Metaphyseal Chondrodysplasia	Metaphyseal Dysplasia Without Hypotrichosis
Cartilage Hair Hypoplasia Like Syndrome	Metaphyseal Chondrodysplasia Mckusick Type
Chhv	Cartilage-Hair Hypoplasia Variant, Skeletal Manifestations Only
Cartilage-Hair Hypoplasia-Like Skeletal Dysplasia Without Hypotrichosis Or Immunodeficiency	Cartilage-Hair Syndrome
Mckusick'S Metaphyseal Chondrodysplasia Syndrome	Metaphyseal Chondrodysplasia, Recessive Type
Autosomal Recessive Metaphyseal Chondrodysplasia

Spondyloepimetaphyseal Dysplasia, Strudwick Type

Spondylometaphyseal Dysplasia	Strudwick Syndrome
Dappled Metaphysis Syndrome	Semd, Strudwick Type
Spondylometaepiphyseal Dysplasia Congenita, Strudwick Type	Smed, Strudwick Type
Smd	Smed Strudwick Type
SEMDSTWK	Smed, Type I
Semdc	Smed Type 1
Spondyloepimetaphyseal Dysplasia Strudwick Type	Sed Strudwick
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Smed Type I
Spondyloepiphyseal Dysplasia Congenita With Dappled Metaphyses	Dysplasia, Spondyloepimetaphyseal, Strudwick Type
Dysplasia, Spondylometaphyseal

Corneal Dystrophy, Subepithelial Mucinous

Subepithelial Mucinous Corneal Dystrophy

SMCD

Coxa Vara

Metaphyseal Dysplasia

Bakwin-Krida Syndrome	Pyle'S Disease
Pyle-Cohn Syndrome

Progressive Pseudorheumatoid Dysplasia

Progressive Pseudorheumatoid Arthropathy Of Childhood	Arthropathy, Progressive Pseudorheumatoid, Of Childhood
Spondyloepiphyseal Dysplasia Tarda With Progressive Arthropathy	Ppd
Ppac	Sedt-Pa
Spondyloepiphyseal Dysplasia Tarda-Progressive Arthropathy Syndrome	PPRD
Progressive Pseudorheumatoid Chondrodysplasia	Spondyloepiphyseal Dysplasia Tarda - Progressive Arthropathy
Spondyloepiphyseal Dysplasia Tarda With Progressive Arthropathy
Dysplasia, Pseudorheumatoid, Progressive

Cleidocranial Dysplasia

Cleidocranial Dysostosis	CLCD
Cleidocranial Dysplasia, Forme Fruste, Dental Anomalies Only	Cleidocranial Dysplasia, Forme Fruste, With Brachydactyly
CCD	Marie-Sainton Disease
Dysplasia Cleidocranial	Dento-Osseous Dysplasia
Marie-Sainton Syndrome	Dysplasia, Cleidocranial

Platyspondylic Lethal Skeletal Dysplasia, Torrance Type

PLSD-T	PLSDT
Platyspondylic Dysplasia, Torrance Type	Lethal Short-Limbed Platyspondylic Dwarfism, Torrance Type
Thanatophoric Dysplasia, Torrance Variant	Platyspondylic Skeletal Dysplasia, Torrance Type
Torrance Type Platyspondylic Dysplasia	Platyspondylic Dysplasia, Torrance-Luton Type
Platyspondylic Lethal Skeletal Dysplasia Torrance Type	Lethal Short-Limbed Platyspondylic Dwarfism Torrance Type
Thanatophoric Dysplasia Torrance Variant	Platyspondylic Chondrodysplasia, Torrance-Luton Type
Plsd-Tl	Dysplasia, Skeletal, Platyspondylic, Torrance Type

Osteochondrodysplasia

Skeletal Dysplasia	Chondrodystrophy
Congenital Anomaly Of Cartilage	Osteochondrodysplasias
Cartilage Development Disorder	Osteochondrodysplasia Syndrome
Dysplasia, Skeletal	Mucopolysaccharidosis Iv

Chondrosarcoma

Cartilaginous Cancer	Chondrosarcoma Of Bone
Primary Chondrosarcoma Of The Bone	CHDSA

Epithelial And Subepithelial Dystrophy

Osteoarthritis

Osteoarthrosis	Degenerative Joint Disease
Hypertrophic Arthritis	Arthropathy
Degenerative Polyarthritis	Degenerative Arthritis
Osteoarthrosis And Allied Disorder	Arthritis, Degenerative
Oa	Osteoarthritis Deformans
Osteoarthrosis Deformans	Kashin-Beck Disease

Spondyloperipheral Dysplasia

Spondyloperipheral Dysplasia With Short Ulna	Spondyloperipheral Dysplasia-Short Ulna Syndrome
SPD	Dysplasia, Spondyloperipheral
Spondyloperipheral Dysplasia Short Ulna

Hyperostosis

Hypertrophy Of Bone	Bone Hypertrophy
Bone Thickening	Periosteum Thickening

Bone Disease

Bone Diseases	Skeletal Disease
Skeletal Disorder	Disorder Of Skeletal System

Spondyloepiphyseal Dysplasia Congenita

SEDC	Sed Congenita
Spondyloepiphyseal Dysplasia, Congenital Type	Late Spondyloepiphyseal Dysplasia
Sed, Congenital Type	Congenital Spondyloepiphyseal Dysplasia
Spranger-Wiedemann Disease	Spondyloepiphyseal Dysplasia Congenital Type
Dysplasia, Spondyloepiphyseal, Congenita	Spondyloepiphyseal Dysplasia, Congenita
Spondyloepiphyseal Dysplasia Tarda, X-Linked

Metachondromatosis

METCDS

Achondrogenesis, Type Ii

Achondrogenesis Type Ii	ACG2
Achondrogenesis, Langer-Saldino Type	Achondrogenesis Type 2
Chondrogenesis Imperfecta	Achondrogenesis, Type Ib, Formerly
Achondrogenesis, Type Ii Or Hypochondrogenesis	Achondrogenesis 2
Acg-Ii	Achondrogenesis-Hypochondrogenesis Type Ii
Achondrogenesis Langer-Saldino Type	Achondrogenesis-Hypochondrogenesis, Type Ii
Hypochondrogenesis

Kniest Dysplasia

Kniest Syndrome	Metatropic Dwarfism, Type Ii
Kniest Chondrodystrophy	Metatropic Dysplasia Type Ii
Swiss Cheese Cartilage Dysplasia	KD
Ks	Metatropic Dwarfism Type Ii
Dysplasia, Kniest

Hypochondrogenesis

Achondrogenesis Type Ii/Hypochondrogenesis

Achondrogenesis

Achondrogenesis Syndrome

Multiple Epiphyseal Dysplasia

Med	Polyepiphyseal Dysplasia
Edm	Epiphyseal Dysplasia, Multiple, 1
Epiphyseal Dysplasia, Multiple, 2	Epiphyseal Dysplasia, Multiple, 3
Epiphyseal Dysplasia, Multiple, 4	Epiphyseal Dysplasia, Multiple, 5
Epiphyseal Dysplasia, Multiple	Edm1
Edm2	Edm3
Edm4	Edm5
Epiphyseal Dysplasia, Fairbank Type	Epiphyseal Dysplasia, Ribbing Type
Multiple Epiphyseal Dysplasia, Autosomal Dominant	Multiple Epiphyseal Dysplasia, Autosomal Recessive
Rmed	Dysplasia, Epiphyseal, Multiple
Osteochondrodysplasias

Spondyloepiphyseal Dysplasia, Nishimura Type

SEDN	Spondyloepiphyseal Dysplasia Nishimura Type

Acromesomelic Dysplasia

Acromesomelic Dwarfism	Dysplasia, Acromesomelic
Acromesomelic Dysplasia Hunter-Thompson Type

Campomelic Dysplasia

Acampomelic Campomelic Dysplasia	Camptomelic Dysplasia
Campomelic Dysplasia With Autosomal Sex Reversal	Cmpd
CMD1	Cmpd1
Cmpd1/Sra1	Acampomelic Campomelic Dysplasia With Autosomal Sex Reversal
Campomelic Dwarfism	Campomelic Syndrome
Dysplasia, Campomelic	Chronic Myeloproliferative Disorder
Familial Dilated Cardiomyopathy

Unilateral Focal Polymicrogyria

Scoliosis

Bone Development Disease

Hypochondroplasia

HCH	Hypochondrodysplasia
Chondrogenesis Imperfecta	Hypochondroplastic Dwarfism
Hypochondroplastic Short Stature

Stickler Syndrome

Arthroophthalmopathy	Hereditary Arthro-Ophthalmo-Dystrophy
Hereditary Arthro-Ophthalmopathy	Stickler Dysplasia
Hereditary Progressive Arthroophthalmopathy	Stickler Syndrome, Type 1

Brittle Bone Disorder

Osteogenesis Imperfecta	Brittle Bone Disease
Fragilitas Ossium	Osteopsathyrosis
Lobstein Disease	Oi
Vrolik Disease	Lobstein'S Disease
Lobstein'S Syndrome	Vrolik'S Disease
Porak And Durante Disease	Glass Bone Disease
Osteogenesis Imperfecta, Dominant Perinatal Lethal	Osteogenesis Imperfecta, Recessive Perinatal Lethal
Brittle Bone Syndrome	Oi - [Osteogenesis Imperfecta]
Ossium Fragility	Osteitis Fragilitans
Bony Fragility	Blue Sclera With Fragility Of Bone And Deafness
White Blue Sclera - Fragility Of Bone - Deafness

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-RS02959	COL10A1 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	COL10A1	RGD	RGD:2371
Bos taurus	COL10A1	VGNC	VGNC:27553
Felis catus	COL10A1	VGNC	VGNC:102404
Macaca mulatta	COL10A1	VGNC	VGNC:104370
Mus musculus	COL10A1	MGD	MGI:88445
Canis familiaris	COL10A1	VGNC	VGNC:39455