|
Gene id |
286187 |
| Gene Summary Diseases PubMed |
Gene Summary
|
|
Gene Symbol |
PPP1R42 Gene UCSC Ensembl |
|
Aliases |
LRRC67, TLLR, TLRR, dtr |
|
Gene name |
protein phosphatase 1 regulatory subunit 42 |
|
Alternate names |
protein phosphatase 1 regulatory subunit 42, leucine rich repeat containing 67, leucine-rich repeat-containing protein 67, testis leucine-rich repeat, |
|
Gene location |
8q13.1 (67028553: 66964102) Exons: 9 NC_000083.6
|
|
Gene summary(Entrez) |
The protein encoded by this gene can interact with gamma-tubulin and PP1 phosphatase, a regulator of centrosome separation. The encoded protein is a positive regulator of PP1 phosphatase and thus plays a role in the control of centrosome integrity. [provi
|
|
OMIM |
617720 |
|
| Associated diseases |
References |
| Associated with a cytoskeletal complex in the testis | MIK: 19886865 |
| Role in spermiogenesis | MIK: 21738792 |
| May serve to target this important signaling molecule near the nucleus of developing spermatids in order to control the cellular rearrangements of spermiogenesis | MIK: 18237440 |
| Associated with a cytoskeletal complex in the testis | MIK: 19886865 |
| Cryptorchidism | MIK: 28606200 |
| May serve to target this important signaling molecule near the nucleus of developing spermatids in order to control the cellular rearrangements of spermiogenesis | MIK: 18237440 |
| Spermatogenic defects | MIK: 31037746 |
|
|
| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
| 19886865 |
Associated
with a cy
toskeletal
complex i
n the test
is
|
|
|
|
Male infertility |
|
Show abstract |
| 18237440 |
May serve
to target
this impor
tant signa
ling molec
ule near t
he nucleus
of develo
ping sperm
atids in o
rder to co
ntrol the
cellular r
earrangeme
nts of spe
rmiogenesi
s
|
|
|
|
Male infertility |
|
Show abstract |
| 21738792 |
Role in sp
ermiogenes
is
|
|
|
|
Male infertility |
|
Show abstract |
| 28606200 |
Cryptorchi
dism
|
|
|
Monozgotic twin
s (1 control, I
cwith cryptorc
hidism)
|
Male infertility |
MeDIP-Seq
|
Show abstract |
| 31037746 |
Spermatoge
nic defect
s
|
|
|
28 men with az
oospermia
|
Male infertility |
Microarray
|
Show abstract |
| 31037746 |
Spermatoge
nic defect
s
|
|
|
16 (1 control,
15 cases)
|
Male infertility |
GSE6023 analyzed using GEO2R
|
Show abstract |
|