CYP24A1 C477Lfs*14

Stable Identifier
R-HSA-5602011
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Synonyms
Cytochrome P450 24A1, CP24_HUMAN
Locations in the PathwayBrowser
External Reference Information
External Reference
Gene Names
CYP24A1, CYP24
Chain
transit peptide:1-35, chain:36-514
Other Identifiers
00100+1.14.15.16
11732877_a_at
11737968_a_at
11752903_a_at
1591
16920497
206504_at
22261
3910430
3910431
3910433
3910434
3910435
3910436
3910438
3910439
3910440
3910443
3910444
3910445
3910447
3910450
3910451
3910454
3910455
63771
660_at
71346_at
8067140
A_23_P28815
A_24_P356930
A_33_P3369401
AAA62379
AAB03776
AAB29308
AAI09084
AAI09085
AAW50795
AL138805
AY858838
BC109083
BC109084
CCDS33491
CCDS46616
CYP24A1
CYP24A1-201
CYP24A1-202
CYP24A1-203
ENSG00000019186
ENSP00000216862
ENSP00000379284
ENSP00000379285
ENST00000216862
ENST00000395954
ENST00000395955
EntrezGene:1591
g4503204_3p_at
GE57625
GO:0001649
GO:0003674
GO:0004497
GO:0005506
GO:0005575
GO:0005622
GO:0005623
GO:0005634
GO:0005654
GO:0005737
GO:0005739
GO:0005741
GO:0005886
GO:0006629
GO:0006766
GO:0007165
GO:0008150
GO:0008403
GO:0009056
GO:0016491
GO:0016705
GO:0020037
GO:0030154
GO:0030342
GO:0033280
GO:0042359
GO:0042369
GO:0043167
GO:0043226
GO:0044281
GO:0046872
GO:0055114
GO:0070561
HGNC:2602
HPA022261
HPA063771
ILMN_1685663
IPR001128
IPR002401
IPR002949
IPR017972
IPR036396
L13286
L13286_at
MIM:126065
MIM:143880
NM_000782
NM_001128915
NP_000773
NP_001122387
PF00067
PR00385
PR00463
PR01238
S67623
TC20000962.hg
U60669
uc002xwu.2
uc002xwv.3
uc002xww.3
UPI00001281B8
UPI000022B531
UPI00004BAD50
XM_005260304
XM_017027691
XM_017027692
XM_017027693
XP_005260361
XP_016883180
XP_016883181
XP_016883182
Participant Of
Other forms of this molecule
Modified Residues
Name
Replacement of residues 477 to 489 by LDCPQIRHPGHRQ
Disease
Name Identifier Synonyms
hypercalcemia 12678 hypercalcemia (disorder), hypercalcinemia, hypercalcaemia, hyperCALCEMIA, hypercalcemia, hypercalcaemia
Cross References
ZINC - World Drugs
ZINC - FDA approved
GeneCards
ZINC - Substances
ZINC target
PRO
BRENDA (Homo sapiens)
ZINC - Predictions - Purchasable
Orphanet
HMDB Protein