|
Gene id |
10046 |
| Gene Summary Diseases PubMed |
Gene Summary
|
|
Gene Symbol |
MAMLD1 Gene UCSC Ensembl |
|
Aliases |
CG1, CXorf6, F18, HYSP2 |
|
Gene name |
mastermind like domain containing 1 |
|
Alternate names |
mastermind-like domain-containing protein 1, |
|
Gene location |
Xq28 (150361563: 150514177) Exons: 12 NC_000001.11
|
|
Gene summary(Entrez) |
This gene encodes a mastermind-like domain containing protein. This protein may function as a transcriptional co-activator. Mutations in this gene are the cause of X-linked hypospadias type 2. Alternate splicing results in multiple transcript variants. [p
|
|
OMIM |
300120 |
|
| Associated diseases |
References |
| Hypospadias | MIK: 17086185, KEGG: H02175 |
| Hypospadias | MIK: 17086185 |
| Hypospermatogenesis | MIK: 28361989 |
|
|
| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
| 17086185 |
Hypospadia
s
|
|
|
|
Male infertility |
|
Show abstract |
| 28361989 |
Hyposperma
togenesis
|
|
|
6 (3 controls,
3 Klienfelter s
yndrome
|
Male infertility |
Microarray
|
Show abstract |
| 23272655 |
Hypospadia
s
|
|
Egyptia
n
|
|
Male infertility |
|
Show abstract |
|