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MAMLD1 encodes a mastermind-like domain containing protein.
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Study provides evidence that MAMLD1 transcription is up-regulated in patients with 46,XX testicular and ovotesticular disorders of sex development.
occurrence of MAMDL1 gene polymorphisms, specially of c.2960C>T in 3' UTR of its exon 7 is associated with a higher risk of isolated hypospadias in Indian children, probably by lowering androgenic levels
These results imply that the pathogenic events resulting from MAMLD1 mutations include splice errors.
MAMLD1 sequence variations may not suffice to explain the phenotype in carriers and MAMLD1 may also have a role in adult life
The single-nucleotide polymorphisms of MAMLD1 bear no obvious correlation with hypospadias, and MAMLD1 is not a candidate gene in its pathogenesis in the Chinese population.
MAMLD1 mutations cause 46,XY disorders of sex development primarily because of compromised testosterone production around critical period for sex development; in addition, SNP in MAMLD1 may constitute a susceptibility factor for hypospadia. [REVIEW]
Data suggest that MAMLD1 should be routinely sequenced in 46,XY disorders of sex development (DSD (show FADS1 Proteins)) patients with otherwise normal AR, SRD5A2 (show SRD5A2 Proteins) and NR5A1 (show NR5A1 Proteins) genes.
mutational analysis of the MAMLD1-gene in hypospadias
The identification and genomic characterization of the F18 (MAMLD1) gene in human
Deletion of the F18 (MAMLD1) and MTM1 (show MTM1 Proteins) genes in two patients with congenital myopathy and hypospadias
MAMLD1 contributes to the maintenance of postnatal testicular growth and daily sperm production but is dispensable for androgen biosynthesis and fertility.
MAMLD1 likely participates in functional luteolysis by regulating Stat5b (show STAT5B Proteins) and other genes, independent of the PGF2alpha signaling pathway.
Mamld1 deficiency significantly reduces mRNA expression levels of multiple genes expressed in mouse fetal Leydig cells but permits normal genital and reproductive development
Mamld1 enhances Cyp17a1 (show CYP17A1 Proteins) expression primarily in Leydig cells and permit to produce a sufficient amount of testosterone for male sex development, independently of the Hes3 (show HES3 Proteins)-related non-canonical Notch (show NOTCH1 Proteins) signaling
CXorf6 transactivates the Hes3 (show HES3 Proteins) promoter, augments testosterone production
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.
mastermind-like domain-containing protein 1