|
Gene id |
9662 |
| Gene Summary Protein Summary Diseases PubMed |
Gene Summary
|
|
Gene Symbol |
CEP135 Gene UCSC Ensembl |
|
Aliases |
CEP4, KIAA0635, MCPH8 |
|
Gene name |
centrosomal protein 135 |
|
Alternate names |
centrosomal protein of 135 kDa, centrosomal protein 135kDa, centrosomal protein 4, centrosome protein cep135, |
|
Gene location |
4q12 (55948807: 56033360) Exons: 26 NC_000005.10
|
|
Gene summary(Entrez) |
This gene encodes a centrosomal protein, which acts as a scaffolding protein during early centriole biogenesis, and is also required for centriole-centriole cohesion during interphase. Mutations in this gene are associated with autosomal recessive primary
|
|
OMIM |
611423 |
Protein Summary
|
|
| Associated diseases |
References |
| Multiple morphological anomalies of sperm flagella (MMAF) | MIK: 28866084 |
| Primary microcephaly | KEGG: H00269 |
| Multiple morphological abnormalities of the sperm flagella (MMAF) | MIK: 28866084 |
| Male infertility | MIK: 28866084 |
| Spermatogenic defects | MIK: 31037746 |
| Teratozoospermia | MIK: 17327269 |
|
|
| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
| 28866084 |
Multiple m
orphologic
al abnorma
lities of
the sperm
flagella (
MMAF), Mal
e infertil
ity
|
|
|
1 infertile mal
e
|
Male infertility |
|
Show abstract |
| 29713536 |
Sperm morp
hological
defects
|
c.A1364T (p.D455V) |
|
|
Male infertility |
NGS
|
Show abstract |
| 17327269 |
Teratozoos
permia
|
|
|
19 (6 controls
, 13 cases)
|
Male infertility |
GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
|
Show abstract |
| 31037746 |
Spermatoge
nic defect
s
|
|
|
28 men with az
oospermia
|
Male infertility |
Microarray
|
Show abstract |
|