Type | Description |
---|---|
Definition | family with sequence similarity 126 member A |
Date | Results | Publications |
---|---|---|
2019-08-24 12:44:00 | Downregulation of Drosophila TTC7 and Hyccin also reduces neuronal Abeta accumulation and associated synaptic and motor defects as well as premature death in Abeta42-expressing flies, while overexpression of TTC7 and Hyccin produced the opposite effect. | 30103315 |
2016-05-14 10:54:00 | point to a role for FAM126A in supporting myelination, an important process in development and also following acute exacerbations in multiple sclerosis | 26571211 |
2014-12-20 12:39:00 | A disease-associated FAM126A missense mutation causes protein accumulation in subcellular compartments. | 24417797 |
2013-11-23 10:31:00 | Identified two novel FAM126A mutations in three hypomyelination and congenital cataract affected members of two unrelated families. | 23998934 |
2013-07-27 12:06:00 | Two novel mutations in the FAM126A gene were identified in 2 unrelated families with Hypomyelination and congenital cataract | 22749724 |
Type | IDs |
---|---|
Synonymous | DRCTNNB1A, HCC, HLD5, HYCC1 |
Gene |
UniProtKB-ID:
HYCCI_HUMAN
UniprotKB:
Q9BYI3
UniParc:
UPI000006FF45,
UPI0000469B0A,
UPI000006D71E
EMBL:
AK056319,
CH236948,
AB030241,
BC018710,
KU178809,
BX640757,
AC006039,
CH471073,
AC005682,
AK054887,
KU178808
Ensembl:
ENSG00000122591
KO:
hsa:84668
|
Nucleutide sequences |
EMBL-CDS:
CAE45864.1,
EAL24262.1,
ALQ34267.1,
EAW93768.1,
BAB39849.1,
AAS01991.1,
AAS07519.1,
BAB71148.1,
BAB70823.1,
AAH18710.1,
ALQ34266.1,
EAW93767.1
Ensembl_TRS:
ENST00000432176,
ENST00000409923
|
Protein sequencees |
Ensembl_PRO:
ENSP00000386246,
ENSP00000403396
RefSeq:
NP_115970.2,
NP_001350395.1,
NP_001350396.1,
XP_011513891.1,
XP_011513892.1
|
Others |
UniRef100:
UniRef100_Q9BYI3
UniRef90:
UniRef90_Q9BYI3
UniRef50:
UniRef50_Q9BYI3
UniGene:
Hs.85603
CCDS:
CCDS5377.1,
CCDS87486.1
|
{{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
---|---|---|---|---|---|---|---|---|
Refseq |
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