B3GALT6 R197Afs*81

Stable Identifier
R-HSA-4420356
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Synonyms
Beta-1,3-galactosyltransferase 6, B3GT6_HUMAN
Locations in the PathwayBrowser
External Reference Information
External Reference
Gene Names
B3GALT6
Chain
chain:1-329
Reference Transcript
Other Identifiers
0001090672
11720683_at
11720684_at
126792
1553959_a_at
16657680
225733_at
2315638
2315639
2315640
2315641
2315642
2315643
2315644
2315645
49058_at
7896878
A_23_P35021
A_33_P3407042
AAL11442
AL162741
AY050570
B3GALT6
B3GALT6-201
CCDS13
ENSG00000176022
ENSP00000368496
ENST00000379198
EntrezGene:126792
GE54772
GO:0000139
GO:0003674
GO:0005575
GO:0005622
GO:0005623
GO:0005737
GO:0005794
GO:0005797
GO:0005975
GO:0006024
GO:0006464
GO:0006486
GO:0006790
GO:0008150
GO:0008378
GO:0008499
GO:0009058
GO:0015012
GO:0016020
GO:0016021
GO:0016740
GO:0016757
GO:0030203
GO:0030206
GO:0032580
GO:0035250
GO:0043226
GO:0044281
GO:0047220
HGNC:17978
Hs.284284.0.A1_3p_at
Hs2.284284.1.S1_3p_s_at
ILMN_1739749
IPR002659
MIM:271640
MIM:615291
MIM:615349
NM_080605
NP_542172
PF01762
PH_hs_0029625
TC01000031.hg
uc001adk.4
UPI0000141885
Participant Of
Other forms of this molecule
Modified Residues
Name
Replacement of residues 197 to 276 by AGARPPGNSATTTCPTRWAAATCSRPTWCTTCASAATTCAPGTARTCLWAPGWRRWTSSGSTTRASTPNTGPAAAATSTW
Disease
Name Identifier Synonyms
Ehlers-Danlos syndrome 13359 Cutis hyperelastica, elastic skin
Cross References
RefSeq
GeneCards
PRO
BRENDA (Homo sapiens)
Orphanet
HMDB Protein