SMPDB_ID

SMP0000189

PW_ID

PW000218

图片

主题

Disease

描述

Hartunup Disorder (HND, Hartnup Disease) is an autosomal recessive disease caused by a mutation in the SLC6A19 which codes for sodium-dependent neutral amino acid transporter B(0). A deficiency in this enzyme results in accumulation of L-alanine, L-asparagine, L-histidine, indoleacetic acid, L-isoleucine, L-leucine, L-phenylalanine, L-serine, L-threonine, L-tryptophan, L-valine, and L-tyrosine in urine. Symptoms include pellagra, psychosis, ataxia, and mental retardation. Treatment includes nicotinamide.

代谢物

SMPDB ID	代谢物id	代谢物的名字
SMP0000189	PW_C000448	L-Cysteine
SMP0000189	PW_C000026	Aldosterone
SMP0000189	PW_C000463	Hydrogen carbonate
SMP0000189	PW_C000200	Urea
SMP0000189	PW_C001420	Water
SMP0000189	PW_C000457	Potassium
SMP0000189	PW_C000458	Sodium
SMP0000189	PW_C000374	Chloride ion

蛋白质

SMPDB ID	蛋白质id	蛋白质的名字
SMP0000189	Q15849	Urea transporter 2
SMP0000189	P82251	B(0,+)-type amino acid transporter 1
SMP0000189	Q07837	Neutral and basic amino acid transport protein rBAT
SMP0000189	P08235	Mineralocorticoid receptor
SMP0000189	Q92536	Y+L amino acid transporter 2
SMP0000189	Q9UM01	Y+L amino acid transporter 1
SMP0000189	Q969I6	Sodium-coupled neutral amino acid transporter 4
SMP0000189	Q9NP91	Sodium- and chloride-dependent transporter XTRP3
SMP0000189	Q01650	Large neutral amino acids transporter small subunit 1
SMP0000189	P08195	4F2 cell-surface antigen heavy chain
SMP0000189	Q9UHI5	Large neutral amino acids transporter small subunit 2
SMP0000189	P43005	Excitatory amino acid transporter 3
SMP0000189	P51170	Amiloride-sensitive sodium channel subunit gamma
SMP0000189	P51172	Amiloride-sensitive sodium channel subunit delta
SMP0000189	P51168	Amiloride-sensitive sodium channel subunit beta
SMP0000189	P37088	Amiloride-sensitive sodium channel subunit alpha
SMP0000189	Q92482	Aquaporin-3
SMP0000189	P41181	Aquaporin-2
SMP0000189	O15244	Solute carrier family 22 member 2
SMP0000189	Q9UHW9	Solute carrier family 12 member 6
SMP0000189	Q4U2R8	Solute carrier family 22 member 6
SMP0000189	Q13621	Solute carrier family 12 member 1
SMP0000189	P29972	Aquaporin-1
SMP0000189	P51800	Chloride channel protein ClC-Ka
SMP0000189	P54710	Sodium/potassium-transporting ATPase subunit gamma
SMP0000189	B7ZKV8	ATPase, (Na+)/K+ transporting, beta 4 polypeptide
SMP0000189	P54709	Sodium/potassium-transporting ATPase subunit beta-3
SMP0000189	P14415	Sodium/potassium-transporting ATPase subunit beta-2
SMP0000189	P05026	Sodium/potassium-transporting ATPase subunit beta-1
SMP0000189	Q13733	Sodium/potassium-transporting ATPase subunit alpha-4
SMP0000189	P13637	Sodium/potassium-transporting ATPase subunit alpha-3
SMP0000189	P50993	Sodium/potassium-transporting ATPase subunit alpha-2
SMP0000189	P05023	Sodium/potassium-transporting ATPase subunit alpha-1
SMP0000189	P55017	Solute carrier family 12 member 3