| Type | Description |
|---|---|
| Definition | keratin 86 |
| Date | Results | Publications |
|---|---|---|
| 2019-08-17 10:17:00 | Study reported here a three-generation Chinese family with autosomal dominant monilethrix carrying a novel missense mutation c.1223G>C in KRT86. | 29701253 |
| 2016-06-28 10:49:00 | Analysis of KRT86 revealed a novel mutation, c.1231G>T;p.Glu411*, in exon 7 in the three affected children and their mother with monilethrix. | 25809918 |
| 2015-12-05 11:40:00 | Novel mutations causing monilethrix are reported in KRT81, KRT83, and KRT86. | 25557232 |
| 2014-06-28 11:54:00 | The mutation of extron 7 of KRT86 identified plays a major role in the pathogenesis of this pedigree with monilethrix. | 23981620 |
| 2013-01-26 11:42:00 | Congenital monilethrix and hereditary unilateral external auditory canal atresia are co-inherited in a Chinese pedigree with recurrent KRT86 mutation. | 22568869 |
| Type | IDs |
|---|---|
| Synonymous | HB6, Hb1, K86, KRTHB1, KRTHB6, MNX |
| Gene |
UniProtKB-ID:
KRT86_HUMAN,
A8K872_HUMAN
UniprotKB:
O43790,
A8K872
UniParc:
UPI00015DA941,
UPI000006E57E
EMBL:
AJ000263,
AK292237,
X99142,
BC069585
Ensembl:
ENSG00000170442
KO:
hsa:3892
|
| Nucleutide sequences |
EMBL-CDS:
AAH69585.1,
CAA67579.1,
CAA03979.1,
BAF84926.1
Ensembl_TRS:
ENST00000423955,
ENST00000293525
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000444533,
ENSP00000293525
RefSeq:
XP_016874785.1,
XP_005268923.1,
NP_001307127.1
|
| Others |
UniRef100:
UniRef100_O43790,
UniRef100_A8K872
UniRef90:
UniRef90_P78385
UniRef50:
UniRef50_P78385
UniGene:
Hs.278658
CCDS:
CCDS41785.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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