CYP27B1 D320Tfs*32

Stable Identifier
R-HSA-5602192
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Synonyms
CYP27B1, 25-hydroxyvitamin D-1 alpha hydroxylase, CP2B_HUMAN
Locations in the PathwayBrowser
Summation

The start coordinate is not yet known

External Reference Information
External Reference
Gene Names
CYP27B1, CYP1ALPHA, CYP27B
Chain
transit peptide:1-, chain:-508
Reference Transcript
Other Identifiers
0000670403
11722122_at
11722123_a_at
1594
16766701
205676_at
38909_at
7964535
A_23_P36397
CCDS8954
CYP27B1
CYP27B1-201
ENSG00000111012
ENSP00000228606
ENST00000228606
EntrezGene:1594
g4503212_3p_at
GE53119
GO:0004497
GO:0004498
GO:0005506
GO:0005737
GO:0005739
GO:0005741
GO:0006766
GO:0006816
GO:0008285
GO:0010956
GO:0010980
GO:0016020
GO:0016491
GO:0016705
GO:0020037
GO:0030282
GO:0030308
GO:0030500
GO:0031966
GO:0032496
GO:0033280
GO:0034341
GO:0036378
GO:0042359
GO:0042369
GO:0043627
GO:0045618
GO:0046697
GO:0046872
GO:0055074
GO:0055114
GO:0070314
GO:0070564
HGNC:2606
Hs.524528
ILMN_1740418
MIM:264700
MIM:609506
NM_000785
NP_000776
PF00067
PH_hs_0011704
PR00385
PR00463
TC12001634.hg
TC12002920.hg
uc001spz.2
UPI000000D77F
Participant Of
Other forms of this molecule
Modified Residues
Name
Replacement of residues 320 to 350 by TRCPTRSLGLCMSSPGTPKSRQHSTQRSQLP
Disease
Name Identifier Synonyms
rickets 10609 vitamin D-dependent rickets, active rickets, Rickets, active
Cross References
RefSeq
Brenda
GeneCards
ZINC target
PRO
Orphanet
HMDB Protein