Gene Symbol | MAMLD1 |
Entrez Gene ID | 10046 |
Full Name | mastermind like domain containing 1 |
Synonyms | CG1,CXorf6,F18,HYSP2 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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. [provided by RefSeq, Apr 2010]. |
Disorder MIM: | |
Disorder Html: | Hypospadias 2, X-linked, 300758 (3) |