FAM20B - FAM20B glycosaminoglycan xylosylkinase Gene

Homo sapiens

Also known as gxk1

Gene ID: 9917 | Gene type: protein coding

About FAM20B

Cytogenetic location: 1q25.2 Genomic coordinates (GRCh38): 1:179,017,334-179,076,567 (from NCBI)

This gene has 2 transcripts (splice variants), 207 orthologues and 2 paralogues. Ubiquitous expression in adrenal (RPKM 13.7), brain (RPKM 12.6) and 25 other tissues.

Summary

Enables phosphotransferase activity, alcohol group as acceptor. Predicted to be involved in proteoglycan biosynthetic process. Located in Golgi apparatus and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]

FAM20B Products(3)

mRNA	Protein	Name
NM_001324310.2	NP_001311239.1	glycosaminoglycan xylosylkinase
NM_001324311.2	NP_001311240.1	glycosaminoglycan xylosylkinase
NM_014864.4	NP_055679.1	glycosaminoglycan xylosylkinase

FAM20B Protein Structure

Fam20C

0
100
200
300
409 a.a.

Protein Preferred Names

Protein Names

glycosaminoglycan xylosylkinase

family with sequence similarity 20, member B

Recombinant FAM20B Proteins

Cat. No.	Product Name	Accession	Purity
HY-P76326	FAM20B Protein, Human (HEK293, Fc)	O75063/NP_055679.1 (S31-L409)	≥95%

Related Diseases

Diseases

Alias

Desbuquois Dysplasia

Desbuquois Syndrome	Micromelic Dwarfism With Vertebral And Metaphyseal Abnormalities And Advanced Carpotarsal Ossification
Dysplasia, Desbuquois

Gingival Fibromatosis

Hereditary Gingival Fibromatosis	Hereditary Gingival Hyperplasia
Autosomal Dominant Gingival Fibromatosis	Autosomal Dominant Gingival Hyperplasia
Fibromatosis, Gingival, Hereditary	Fibromatosis, Gingival

Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations

Spondyloepiphyseal Dysplasia	Chst3-Related Skeletal Dysplasia
Humerospinal Dysostosis	Spondyloepiphyseal Dysplasia, Omani Type
Chondrodysplasia With Multiple Dislocations	SEDCJD
Hsd	Cdmd
Humero-Spinal Dysostosis	Kozlowski Celermajer Tink Syndrome
Chondrodysplasia With Congenital Joint Dislocations, Chst3 Type	Larsen Syndrome, Recessive Type
Humero-Spinal Dysostosis With Congenital Heart Disease	Omani Type
Sed	Chst3 Deficiency
Chst3-Related Dysplasia	Recessive Larsen Syndrome
Autosomal Recessive Larsen Syndrome	Sed With Luxations, Chst3 Type
Sed, Omani Type	Sdcd, Chst3 Type
Spondyloepiphyseal Dysplasia With Congenital Joint Dyslocations, Chst3 Type	Sed Omani Type
Spondyloepiphyseal Dysplasia Omani Type	Larsen Syndrome, Autosomal Recessive
Mucopolysaccharidosis Iv	Spondyloepiphyseal Dysplasia, Congenita

Temtamy Preaxial Brachydactyly Syndrome

Preaxial Brachydactyly Syndrome, Temtamy Type	TPBS
Intellectual Disability Syndrome With Preaxial Brachydactyly, Hyperphalangism, Deafness And Orodental Anomalies	Preaxial Brachydactyly Syndrome Temtamy Type

Hereditary Multiple Exostoses

Multiple Congenital Exostosis	Hereditary Multiple Exostoses 1
Hereditary Multiple Exostoses 2	Hereditary Multiple Exostoses 3
Multiple Exostosis Syndromes	Multiple Ostechondromas
Osteochondromatosis Syndrome	Exostoses Multiple Hereditary
Exostoses, Multiple Hereditary

Exostosis

Osteophyte	Exostoses
Orbital Exostosis	Exostosis Of Orbit
Bone Spur	Bony Outgrowth
Swimmer'S Exostosis	Osteophytes
External Exotoses	Cartilaginous Exostosis

Spondyloepimetaphyseal Dysplasia With Joint Laxity

Dysplasia, Spondyloepimetaphyseal, With Joint Laxity	Semdjl
Spondyloepimetaphyseal Dysplasia Joint Laxity	Semd-Jl
Semdjl1	Spondyloepimetaphyseal Dysplasia With Joint Laxity Type 1
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Beighton Type

Amelogenesis Imperfecta

Ai	Congenital Enamel Hypoplasia
Al - [Amelogenesis Imperfecta]

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-RS04705	FAM20B Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	FAM20B	VGNC	VGNC:28786
Felis catus	FAM20B	VGNC	VGNC:62098
Mus musculus	FAM20B	MGD	MGI:2443990
Canis familiaris	FAM20B	VGNC	VGNC:40655
Rattus norvegicus	FAM20B	RGD	RGD:1311162
Macaca mulatta	FAM20B	VGNC	VGNC:72317
Others	FAM20B	NCBI

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