| Type | Description |
|---|---|
| Definition | biotinidase |
| Date | Results | Publications |
|---|---|---|
| 2020-04-18 10:07:00 | In patients with biotinidase deficiency, the p.Leu40Pro, p.Cys160Tyr and p.Leu446Pro variants are deleterious; the p.Asn489Ser is probably related to a mild biochemical phenotype; and p.Asp222Asn variant is probably not deleterious. The p.Asp444His variant seems to code for a protein with variable activity. | 31337602 |
| 2018-12-01 11:45:00 | BTD mutation is associated with biotinidase deficiency. | 29995633 |
| 2018-02-03 11:29:00 | Biotinidase deficiency is reviewed. | 26577040 |
| 2017-07-15 10:33:00 | Four rare missense variants were identified (ACTBL2 rs73757391 (5q11.2), BTD rs200337373 (3p25.1), KRT13 rs150321809 (17q21.2) and MC2R rs104894658 (18p11.21)), but only MC2R rs104894668 had a large effect size (OR = 9.66). | 27378695 |
| 2017-01-28 11:09:00 | The history and genetic basis of biotinidase deficiency has been presented. (Review) | 26456103 |
| Type | IDs |
|---|---|
| Gene |
UniProtKB-ID:
BTD_HUMAN
UniprotKB:
P43251
UniParc:
UPI00017A75A0,
UPI0000126B09,
UPI000013E8A8,
UPI00017A7026
EMBL:
AK301838,
U03274,
AK294301,
CH471055,
AK297033,
AK313252,
AF018630,
BC012099,
AC027129,
AF018631
Ensembl:
ENSG00000169814
KO:
hsa:686
|
| Nucleutide sequences |
EMBL-CDS:
AAH12099.1,
BAG59561.1,
BAG57582.1,
BAG36062.1,
BAH13565.1,
AAC04318.1,
EAW64254.1,
AAC21679.1
Ensembl_TRS:
ENST00000672112,
ENST00000449107,
ENST00000672065,
ENST00000383778,
ENST00000437172,
ENST00000427382,
ENST00000646371,
ENST00000643237,
ENST00000303498
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000388212,
ENSP00000500193,
ENSP00000306477,
ENSP00000495866,
ENSP00000400995,
ENSP00000397113,
ENSP00000373288,
ENSP00000495254,
ENSP00000500403
RefSeq:
NP_001268653.2,
XP_024309492.1,
NP_001357681.1,
NP_001268652.2,
XP_011532343.1,
NP_001357682.1,
NP_001357587.1,
NP_001268654.1,
NP_001310511.1,
NP_001268655.2,
XP_016862577.1
|
| Others |
UniRef100:
UniRef100_P43251
UniRef90:
UniRef90_P43251
UniRef50:
UniRef50_P43251
UniGene:
Hs.517830
CCDS:
CCDS63565.1,
CCDS2628.1,
CCDS63563.1,
CCDS63564.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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