GlyCosmos Portal

Homo sapiens (human)

Summary

Taxonomy ID: 9606
PubChem Taxonomy: 9606

Genes (1582) Glycans (5831) Glycoproteins (18496) Lectins (298) Pathways (2090)

Displaying entries **351 - 375** of **2090** in total

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Pathway Name ▲	Protein Name	UniProt ID	Gene Symbol
Defective ABCA12 causes ARCI4B	Glucosylceramide transporter ABCA12	Q86UK0	ABC12 ABCA12
Defective ABCA3 causes SMDP3	Phospholipid-transporting ATPase ABCA3	Q99758	ABC3 ABCA3
Defective ABCA3 causes SMDP3	Phospholipid-transporting ATPase ABCA3	Q99758	ABC3 ABCA3
Defective ABCB11 causes PFIC2 and BRIC2	Bile salt export pump	O95342	ABCB11 BSEP
Defective ABCB4 causes PFIC3, ICP3 and GBD1	Phosphatidylcholine translocator ABCB4	P21439	ABCB4 MDR3 PGY3
Defective ABCB6 causes MCOPCB7	ATP-binding cassette sub-family B member 6	Q9NP58	ABCB6 MTABC3 PRP UMAT
Defective ABCC2 causes DJS	ATP-binding cassette sub-family C member 2	Q92887	ABCC2 CMOAT CMOAT1 CMRP MRP2
Defective ABCC6 causes PXE	ATP-binding cassette sub-family C member 6	O95255	ABCC6 ARA MRP6
Defective ABCC8 can cause hypo- and hyper-glycemias	ATP-binding cassette sub-family C member 8 ATP-sensitive inward rectifier potassium channel 11	Q09428 Q14654	ABCC8 HRINS KCNJ11 SUR SUR1
Defective ABCC9 causes CMD10, ATFB12 and Cantu syndrome	ATP-binding cassette sub-family C member 9 ATP-sensitive inward rectifier potassium channel 11	O60706 Q14654	ABCC9 KCNJ11 SUR2
Defective ABCD1 causes ALD	ATP-binding cassette sub-family D member 1	P33897	ABCD1 ALD
Defective ABCD4 causes MAHCJ	Lysosomal cobalamin transport escort protein LMBD1 Lysosomal cobalamin transporter ABCD4	O14678 Q9NUN5	ABCD4 C6orf209 LMBRD1 NESI PXMP1L
Defective ABCG5 causes sitosterolemia	ATP-binding cassette sub-family G member 5 ATP-binding cassette sub-family G member 8	Q9H221 Q9H222	ABCG5 ABCG8
Defective ABCG8 causes GBD4 and sitosterolemia	ATP-binding cassette sub-family G member 5 ATP-binding cassette sub-family G member 8	Q9H221 Q9H222	ABCG5 ABCG8
Defective ACTH causes obesity and POMCD	Adrenocorticotropic hormone receptor Pro-opiomelanocortin	P01189 Q01718	ACTHR MC2R POMC
Defective ACY1 causes encephalopathy	Aminoacylase-1	Q03154	ACY1
Defective ADA disrupts (deoxy)adenosine deamination	Adenosine deaminase	P00813	ADA ADA1
Defective AHCY causes HMAHCHD	Adenosylhomocysteinase	P23526	AHCY SAHH
Defective ALG1 causes CDG-1k	Chitobiosyldiphosphodolichol beta-mannosyltransferase	Q9BT22	ALG1 HMAT1 HMT1
Defective ALG11 causes CDG-1p	GDP-Man	Q2TAA5	ALG11 GT8
Defective ALG14 causes ALG14-CMS	UDP-N-acetylglucosamine transferase subunit ALG13 UDP-N-acetylglucosamine transferase subunit ALG14	Q96F25 Q9NP73	ALG13 ALG14 CXorf45 GLT28D1
Defective ALG9 causes CDG-1l	Alpha-1,2-mannosyltransferase ALG9	Q9H6U8	ALG9 DIBD1
Defective AMN causes MGA1	Cobalamin binding intrinsic factor Cubilin Protein amnionless	O60494 P27352 Q9BXJ7	AMN CBLIF CUBN GIF IFCR IFMH
Defective APRT disrupts adenine salvage	Adenine phosphoribosyltransferase	P07741	APRT
Defective AVP does not bind AVPR1A,B and causes neurohypophyseal diabetes insipidus (NDI)	Vasopressin V1a receptor Vasopressin V1b receptor Vasopressin-neurophysin 2-copeptin	P01185 P37288 P47901	ARVP AVP AVPR1 AVPR1A AVPR1B AVPR3 VP VPR3

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