NXN Chromosome 17
Nucleoredoxin
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What This Gene Does
This gene encodes a member of the thioredoxin superfamily, a group of small, multifunctional redox-active proteins. Members of this family are characterized by a conserved active motif called the thioredoxin fold that catalyzes disulfide bond formation and isomerization. The encoded protein acts a redox-dependent regulator of the Wnt signaling pathway and is involved in cell growth and differentiation. [provided by RefSeq, Sep 2015]
Gene Info
Gene Group
Nucleoredoxin family
Locus Type
gene with protein product
Location
17p13.3
Ensembl
ENSG00000167693
Associated Conditions (3)
Distal shortening of limbs
Robinow syndrome
autosomal recessive 2
Key Variants
RS1555610590
Likely pathogenic
Distal shortening of limbs, Robinow syndrome, autosomal recessive 2
Health Risk
RS1555607285
Pathogenic
Robinow syndrome, autosomal recessive 2, Robinow syndrome
Health Risk
RS1912687309
Pathogenic
Robinow syndrome, autosomal recessive 2, Robinow syndrome
Health Risk
RS2544698218
Pathogenic
Health Risk
RS770241381
Pathogenic
Health Risk
All Variants (5)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1555610590 | Health Risk | Likely pathogenic | Distal shortening of limbs, Robinow syndrome, autosomal recessive 2 |
| RS1555607285 | Health Risk | Pathogenic | Robinow syndrome, autosomal recessive 2, Robinow syndrome |
| RS1912687309 | Health Risk | Pathogenic | Robinow syndrome, autosomal recessive 2, Robinow syndrome |
| RS2544698218 | Health Risk | Pathogenic | — |
| RS770241381 | Health Risk | Pathogenic | — |