
chst14

carbohydrate sulfotransferase 14 anedi maanavulalo "chst14" janyuvu dwara encode cheyabadina enjaim.
janyuvu.
"chst14", oka protein-coding janyuvu, carbohydrate sulfotransferase 14 (chst14)/dermaton 4-oo-sulfotransferase (d4st1) enjaim kosam encode chestundi.
maanavulalo, "chst14" chromosome 15 yokka podavaina cheyi (q) paie 15.1 sthaanamlo, bays jatha 40,470,961 nundi bays jatha 40,474,571 varaku unchabadindi. "chst14" janyuvu 3,611 bays podavu, 376 amaino aamlaalatoe koodi untundi mariyu 42997 daa yokka paramaanu dravyaraasini kaligi untundi.
antology.
"chst14" anedi bahula avayava vyavasthala antataa bandhana kanajaalaala pindam abhivruddhilo chikkukundi. idhi naadii puurvagaami kanaala vistarana mariyu neurogenesis niyantranalo kooda chikkukundi. idhi peddalalo paridheeya naraala punarutpatti nirodhamtho mudipadi undhi.
function.
dermaton 4-oo-sulfotransferase enjaim dermaton sulfate yokka enn-acetyl-dii-galactosamine avasheshaalalo 4 sthaanaaniki kriyaaseela sulfatenu badilee chestundi, eee glycosaminoglycannu sthireekaristundi. dermaton sulfate anedi extracellular matricks erpadataaniki chaalaa avasaram mariyu idhi charmam, snaayuvulu, mrudulaasthi mariyu bruhaddhamani godalo vistrutamgaa kanipistundi. chst14" yokka utparivartana dermaton sulfate lopaniki daariteestundi, idhi fibroblastlalo glycosaminoglycon bhaagaalanu debbateestundi mariyu collagen katala lopala collagen fibrill linkejeeni debbateestundi.
clinical praamukhyata.
chst14" yokka mutation anedi ehlers-danlos syndromes yokka kandaraala-niyantrana rakamtho mudipadi untundi, iteevala dheenini chst14/d4st1 lopam anie perkonabadindi. gatamlo, eee paristhitini swatantramgaa adducted thumb-clubfoot syndrome, ehlers-danlos syndrome, kosho rakam, musculocontractural ehlers-danlos syndrome mariyu ehlers-danlos rakam vaib anie pilustaaru. prastutam, 27 kutumbaalaku chendina 40 mandhi rogulaku eee autosomal recessive mutation unnatlu nirdhaarana ayindi. chst14/d4st1 lopam anedi charma sulfate utpattini neerugaa prabhaavitam chese mottamodati maanava vyaadhi."lakshanaalalo puttukatho vachhe vaikalyalu (vistrutamaina kapaala lopaalu, charma sthitisthaapakata, keella virechanaalu, bahula anubandhalu) prabhaavita nirmaanaala pragatiseela durbalatvamto kalipi, gayalu, punaraavruta keella tolaguta, pneumothorax, vennemuka ksheenata mariyu itara vaikalyala sambhavam vantivi unnaayi.

