BTBD9
entrez
114781
canonical
uniprot
Q96Q07
canonical
ensembl
ENSG00000183826
resolver
ensp
ENSP00000323408
resolver
ensp
ENSP00000415365
resolver
ensp
ENSP00000418751
resolver
ensp
ENSP00000497066
resolver
ensp
ENSP00000777997
resolver
ensp
ENSP00000783865
resolver
genesymbol
BTBD9
resolver
genesymbol_syn
KIAA1880
resolver
hgnc
HGNC:21228
resolver
uniprot
Q494V9
resolver
uniprot
Q494W1
resolver
uniprot
Q96M00
resolver
uniprot_entry
BTBD9_HUMAN
resolver
uniprot_sec
Q494V9
resolver
uniprot_sec
Q494W1
resolver
uniprot_sec
Q96M00
resolver
amino_acid_sequence
MSNSHPLRPFTAVGEIDHVHILSEHIGALLIGEEYGDVTFVVEKKRFPAHRVILAARCQYFRALLYGGMRESQPEAEIPLQDTTAEAFTMLLKYIYTGRATLTDEKEEVLLDFLSLAHKYGFPELEDSTSEYLCTILNIQNVCMTFDVASLYSLPKLTCMCCMFMDRNAQEVLSSEGFLSLSKTALLNIVLRDSFAAPEKDIFLALLNWCKHNSKENHAEIMQAVRLPLMSLTELLNVVRPSGLLSPDAILDAIKVRSESRDMDLNYRGMLIPEENIATMKYGAQVVKGELKSALLDGDTQNYDLDHGFSRHPIDDDCRSGIEIKLGQPSIINHIRILLWDRDSRSYSYFIEVSMDELDWVRVIDHSQYLCRSWQKLYFPARVCRYIRIVGTHNTVNKIFHIVAFECMFTNKTFTLEKGLIVPMENVATIADCASVIEGVSRSRNALLNGDTKNYDWDSGYTCHQLGSGAIVVQLAQPYMIGSIRLLLWDCDDRSYSYYVEVSTNQQQWTMVADRTKVSCKSWQSVTFERQPASFIRIVGTHNTANEVFHCVHFECPEQQSSQKEENSEESGTGDTSLAGQQLDSHALRAPSGSSLPSSPGSNSRSPNRQHQ
uniprot
proteins
disease_involvement
DISEASE: Restless legs syndrome 6 (RLS6) [MIM:611185]: A neurologic sleep/wake disorder characterized by uncomfortable and unpleasant sensations in the legs that appear at rest, usually at night, inducing an irresistible desire to move the legs. The disorder results in nocturnal insomnia and chronic sleep deprivation. The majority of patients also have periodic limb movements in sleep, which are characterized by involuntary, highly stereotypical, regularly occurring limb movements that occur during sleep. {ECO:0000269|PubMed:17634447, ECO:0000269|PubMed:18216367}. Note=Disease susceptibility may be associated with variants affecting the gene represented in this entry.
uniprot
proteins
mass_dalton
69188
uniprot
proteins
pubmed
11572484
uniprot
proteins
pubmed
14574404
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17634447
uniprot
proteins
pubmed
18216367
uniprot
proteins
pubmed
22658601
uniprot
proteins
sequence_length
612
uniprot
proteins