TXNDC15 gene

thioredoxin domain containing 15

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

This gene encodes a member of the thioredoxin superfamily. Members of this family are characterized by a conserved active motif called the thioredoxin fold that catalyzes disulfide bond formation and isomerization. [provided by RefSeq, Apr 2017]

From UniProt:

Acts as a positive regulator of ciliary hedgehog signaling (By similarity). Involved in ciliogenesis (PubMed:27894351).

From UniProt:

Defects in TXNDC15 may be involved in a form of Meckel syndrome, a disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia and cysts, and polydactyly.

Cytogenetic Location: 5q31.1, which is the long (q) arm of chromosome 5 at position 31.1

Molecular Location: base pairs 134,873,770 to 134,901,633 on chromosome 5 (Homo sapiens Updated Annotation Release 109.20190905, GRCh38.p13) (NCBI)

Cytogenetic Location: 5q31.1, which is the long (q) arm of chromosome 5 at position 31.1
  • BUG
  • C5orf14
  • UNQ335