NXN
entrez
64359
canonical
uniprot
Q6DKJ4
canonical
ensembl
ENSG00000167693
resolver
ensp
ENSP00000337443
resolver
ensp
ENSP00000461038
resolver
ensp
ENSP00000461562
resolver
ensp
ENSP00000703815
resolver
genesymbol
NXN
resolver
genesymbol_syn
NRX
resolver
hgnc
HGNC:18008
resolver
uniprot
B4DXQ0
resolver
uniprot
D3DTH2
resolver
uniprot
Q3SWW6
resolver
uniprot
Q6P3U6
resolver
uniprot
Q7L4C6
resolver
uniprot
Q9H9Q1
resolver
uniprot_entry
NXN_HUMAN
resolver
uniprot_sec
B4DXQ0
resolver
uniprot_sec
D3DTH2
resolver
uniprot_sec
Q3SWW6
resolver
uniprot_sec
Q6P3U6
resolver
uniprot_sec
Q7L4C6
resolver
uniprot_sec
Q9H9Q1
resolver
amino_acid_sequence
MSGFLEELLGEKLVTGGGEEVDVHSLGARGISLLGLYFGCSLSAPCAQLSASLAAFYGRLRGDAAAGPGPGAGAGAAAEPEPRRRLEIVFVSSDQDQRQWQDFVRDMPWLALPYKEKHRKLKLWNKYRISNIPSLIFLDATTGKVVCRNGLLVIRDDPEGLEFPWGPKPFREVIAGPLLRNNGQSLESSSLEGSHVGVYFSAHWCPPCRSLTRVLVESYRKIKEAGQNFEIIFVSADRSEESFKQYFSEMPWLAVPYTDEARRSRLNRLYGIQGIPTLIMLDPQGEVITRQGRVEVLNDEDCREFPWHPKPVLELSDSNAAQLNEGPCLVLFVDSEDDGESEAAKQLIQPIAEKIIAKYKAKEEEAPLLFFVAGEDDMTDSLRDYTNLPEAAPLLTILDMSARAKYVMDVEEITPAIVEAFVNDFLAEKLKPEPI
uniprot
proteins
disease_involvement
DISEASE: Robinow syndrome, autosomal recessive 2 (RRS2) [MIM:618529]: A recessive form of Robinow syndrome, a disease characterized by short-limb dwarfism, costovertebral segmentation defects and abnormalities of the head, face and external genitalia. The clinical signs are generally far more severe in recessive cases, particularly skeletal abnormalities. All patients with the recessive form suffer from vertebral segmentation abnormalities, resulting in scoliosis and chest deformities. Rib fusions are considered to be characteristic of the autosomal recessive form. Patients can also present brachydactyly, with extensive aplasia/hypoplasia of the phalanges and metacarpals/metatarsals, and brachy-syn-polydactyly of the hands and oligodactyly of the feet. {ECO:0000269|PubMed:29276006}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
1.8.1.8
uniprot
proteins
function
FUNCTION: Functions as a redox-dependent negative regulator of the Wnt signaling pathway, possibly by preventing ubiquitination of DVL3 by the BCR(KLHL12) complex. May also function as a transcriptional regulator act as a regulator of protein phosphatase 2A (PP2A) (By similarity). {ECO:0000250|UniProtKB:P97346}.
uniprot
proteins
mass_dalton
48392
uniprot
proteins
protein_family
Nucleoredoxin family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16625196
uniprot
proteins
pubmed
16764867
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
29276006
uniprot
proteins
sequence_length
435
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000250|UniProtKB:P97346}. Nucleus {ECO:0000250|UniProtKB:P97346}.
uniprot
proteins