NKX6-2
entrez
84504
canonical
uniprot
Q9C056
canonical
ensembl
ENSG00000148826
resolver
ensp
ENSP00000357581
resolver
enst
ENST00000368592
resolver
genesymbol
NKX6-2
resolver
genesymbol_syn
GTX
resolver
genesymbol_syn
NKX6B
resolver
hgnc
HGNC:19321
resolver
uniprot
Q5JSF3
resolver
uniprot_entry
NKX62_HUMAN
resolver
uniprot_sec
Q5JSF3
resolver
amino_acid_sequence
MDTNRPGAFVLSSAPLAALHNMAEMKTSLFPYALQGPAGFKAPALGGLGAQLPLGTPHGISDILGRPVGAAGGGLLGGLPRLNGLASSAGVYFGPAAAVARGYPKPLAELPGRPPIFWPGVVQGAPWRDPRLAGPAPAGGVLDKDGKKKHSRPTFSGQQIFALEKTFEQTKYLAGPERARLAYSLGMTESQVKVWFQNRRTKWRKRHAVEMASAKKKQDSDAEKLKVGGSDAEDDDEYNRPLDPNSDDEKITRLLKKHKPSNLALVSPCGGGAGDAL
uniprot
proteins
disease_involvement
DISEASE: Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy (SPAX8) [MIM:617560]: An autosomal recessive neurodegenerative disorder characterized by early-onset hypotonia which progresses to a pyramidal syndrome with ataxia, spasticity, hyperreflexia, weakness and loss of ambulation. Brain imaging shows cerebellar atrophy and hypomyelinating leukodystrophy. {ECO:0000269|PubMed:28575651}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Transcription factor with repressor activity involved in the regulation of axon-glial interactions at myelin paranodes in oligodendrocytes. Binds to the consensus DNA sequence 5'-(A/T)TTAATGA-3'. In oligodendrocytes, binds to MBP and PLP1 promoter regions. {ECO:0000250|UniProtKB:D3Z4R4}.
uniprot
proteins
mass_dalton
29263
uniprot
proteins
pubmed
11210186
uniprot
proteins
pubmed
15164054
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
28575651
uniprot
proteins
sequence_length
277
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:D3Z4R4}.
uniprot
proteins