PDILT

Chr 16

protein disulfide isomerase like, testis expressed

Also known as: PDIA7

NCBI Gene: 204474 ENSG00000169340 UniProt: Q8N807 OMIM: 618588

The protein is a redox-inactive chaperone specifically expressed in the testis that is involved in spermatogenesis and belongs to the protein disulfide isomerase family in the endoplasmic reticulum. Mutations cause autosomal recessive male infertility due to multiple morphological abnormalities of the flagella (MMAF), a condition affecting sperm motility and structure. This gene shows very low constraint against loss-of-function variants in the general population, which is consistent with its specialized reproductive function.

OMIM ResearchSummary from RefSeq, UniProt

This gene encodes a member of the disulfide isomerase (PDI) family of endoplasmic reticulum (ER) proteins that catalyze protein folding and thiol-disulfide interchange reactions. The encoded protein has has an N-terminal ER-signal sequence, two thioredoxin (TRX) domains with non-classical Ser-Lys-Gln-Ser and Ser-Lys-Lys-Cys motifs, respectively, two TRX-like domains, and a C-terminal ER-retention sequence. The protein lacks oxidoreductase activity in vitro and probably functions as a chaperone. This gene's expression appears to be limited to the testis. [provided by RefSeq, Dec 2016]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.80

LOEUF

Multiple*

Mechanism· predicted