|
Gene id |
8418 |
| Gene Summary Protein Summary Gene ontology Diseases PubMed |
Gene Summary
|
|
Gene Symbol |
CMAHP Gene UCSC Ensembl |
|
Aliases |
CMAH, CSAH |
|
Gene name |
cytidine monophospho-N-acetylneuraminic acid hydroxylase, pseudogene |
|
Alternate names |
CMP-N-acetylneuraminic acid hydroxylase, CMP-Neu5Ac hydroxylase, CMP-NeuAc hydroxylase, CMP-sialic acid hydroxylase, cytidine monophosphate-N-acetylneuraminic acid hydroxylase (CMP-N-acetylneuraminate monooxygenase)(pseudogene), |
|
Gene location |
6p22.3 (25138391: 25081066) Exons: 14 NC_000006.12
|
|
Gene summary(Entrez) |
Sialic acids are terminal components of the carbohydrate chains of glycoconjugates involved in ligand-receptor, cell-cell, and cell-pathogen interactions. The two most common forms of sialic acid found in mammalian cells are N-acetylneuraminic acid (Neu5A
|
|
OMIM |
603209 |
Protein Summary
|
|
| GO accession | Term name | Evidence code | Go category |
|---|
|
|
| Associated diseases |
References |
| Teratozoospermia | MIK: 17327269 |
| Unexplained infertility | MIK: 25753583 |
|
|
| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
| 17327269 |
Teratozoos
permia
|
|
|
19 (6 controls
, 13 cases)
|
Male infertility |
GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
|
Show abstract |
| 25753583 |
Unexplaine
d infertil
ity
|
|
|
46 (17 fertile
men, 29 male pa
tients)
|
Male infertility |
Microarray
|
Show abstract |
|