Entity Details

Primary name CHST11
Entity type gene
Source Source Link

Details

PrimaryID50515
RefseqGeneNG_029810
SymbolCHST11
Namecarbohydrate sulfotransferase 11
Chromosome12
Location12q23.3
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2000-03-28
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsCHSTB_HUMAN

GO terms

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GOName
GO:0000139 Golgi membrane
GO:0001537 N-acetylgalactosamine 4-O-sulfotransferase activity
GO:0001701 in utero embryonic development
GO:0002063 chondrocyte development
GO:0007585 respiratory gaseous exchange by respiratory system
GO:0008146 sulfotransferase activity
GO:0009791 post-embryonic development
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0016051 carbohydrate biosynthetic process
GO:0030166 proteoglycan biosynthetic process
GO:0030206 chondroitin sulfate biosynthetic process
GO:0030512 negative regulation of transforming growth factor beta receptor signaling pathway
GO:0033037 polysaccharide localization
GO:0036342 post-anal tail morphogenesis
GO:0042127 regulation of cell population proliferation
GO:0042733 embryonic digit morphogenesis
GO:0043066 negative regulation of apoptotic process
GO:0047756 chondroitin 4-sulfotransferase activity
GO:0048589 developmental growth
GO:0048703 embryonic viscerocranium morphogenesis
GO:0050659 N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity

Diseases

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Disease IDSourceNameDescription
618167 OMIMOsteochondrodysplasia, brachydactyly, and overlapping malformed digits (OCBMD)An autosomal recessive disorder characterized by bilateral symmetric skeletal defects that primarily affect the limbs. Affected individuals have mild short stature due to shortening of the lower leg bones, as well as hand and foot malformations, predominantly brachydactyly and overlapping digits. Other skeletal defects include scoliosis, dislocated patellae and fibulae, and pectus excavatum. The disease is caused by variants affecting the gene represented in this entry.

Interactions

9 interactions