PNLDC1 Chromosome 6
PARN like ribonuclease domain containing exonuclease 1
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What This Gene Does
Enables poly(A)-specific ribonuclease activity. Involved in nuclear-transcribed mRNA poly(A) tail shortening; piRNA processing; and spermatogenesis. Located in endoplasmic reticulum. Implicated in spermatogenic failure 57. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
PARN exonuclease family
Locus Type
gene with protein product
Location
6q25.3
Ensembl
ENSG00000146453
Associated Conditions (5)
Male infertility
Non-obstructive azoospermia
Oligospermia
Spermatogenic failure 57
Male infertility with azoospermia or oligozoospermia due to single gene mutation
Key Variants
RS1474478174
Likely pathogenic
Male infertility, Male infertility
Health Risk
RS1781557432
Likely pathogenic
Non-obstructive azoospermia, Oligospermia, Non-obstructive azoospermia
Health Risk
RS2483206286
Likely pathogenic
Spermatogenic failure 57, Spermatogenic failure 57
Health Risk
RS1254456989
Pathogenic
Spermatogenic failure 57, Spermatogenic failure 57
Health Risk
RS200629089
Pathogenic
Male infertility with azoospermia or oligozoospermia due to single gene mutation, Spermatogenic failure 57, Male infertility with azoospermia or oligozoospermia due to single gene mutation
Health Risk
RS2115028353
Pathogenic
Male infertility with azoospermia or oligozoospermia due to single gene mutation, Spermatogenic failure 57, Male infertility with azoospermia or oligozoospermia due to single gene mutation
Health Risk
RS754159168
Pathogenic
Spermatogenic failure 57, Spermatogenic failure 57
Health Risk
RS763048743
Pathogenic
Male infertility with azoospermia or oligozoospermia due to single gene mutation, Spermatogenic failure 57, Male infertility with azoospermia or oligozoospermia due to single gene mutation
Health Risk
All Variants (8)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1474478174 | Health Risk | Likely pathogenic | Male infertility, Male infertility |
| RS1781557432 | Health Risk | Likely pathogenic | Non-obstructive azoospermia, Oligospermia, Non-obstructive azoospermia |
| RS2483206286 | Health Risk | Likely pathogenic | Spermatogenic failure 57, Spermatogenic failure 57 |
| RS1254456989 | Health Risk | Pathogenic | Spermatogenic failure 57, Spermatogenic failure 57 |
| RS200629089 | Health Risk | Pathogenic | Male infertility with azoospermia or oligozoospermia due to single gene mutation, Spermatogenic failure 57, Male infertility with azoospermia or oligozoospermia due to single gene mutation |
| RS2115028353 | Health Risk | Pathogenic | Male infertility with azoospermia or oligozoospermia due to single gene mutation, Spermatogenic failure 57, Male infertility with azoospermia or oligozoospermia due to single gene mutation |
| RS754159168 | Health Risk | Pathogenic | Spermatogenic failure 57, Spermatogenic failure 57 |
| RS763048743 | Health Risk | Pathogenic | Male infertility with azoospermia or oligozoospermia due to single gene mutation, Spermatogenic failure 57, Male infertility with azoospermia or oligozoospermia due to single gene mutation |