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MAMLD1 encodes a mastermind-like domain containing protein. Additionally we are shipping Mastermind-Like Domain Containing 1 Proteins (4) and Mastermind-Like Domain Containing 1 Kits (2) and many more products for this protein.
Showing 7 out of 8 products:
Cow (Bovine) Polyclonal MAMLD1 Primary Antibody for WB - ABIN2778338
Fukami, Wada, Okada, Kato, Katsumata, Baba, Morohashi, Laporte, Kitagawa, Ogata: Mastermind-like domain-containing 1 (MAMLD1 or CXorf6) transactivates the Hes3 promoter, augments testosterone production, and contains the SF1 target sequence. in The Journal of biological chemistry 2008
Dog (Canine) Polyclonal MAMLD1 Primary Antibody for WB - ABIN2778337
Laporte, Kioschis, Hu, Kretz, Carlsson, Poustka, Mandel, Dahl: Cloning and characterization of an alternatively spliced gene in proximal Xq28 deleted in two patients with intersexual genitalia and myotubular myopathy. in Genomics 1997
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 Antibodies)) patients with otherwise normal AR, SRD5A2 (show SRD5A2 Antibodies) and NR5A1 (show NR5A1 Antibodies) 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 Antibodies) genes in two patients with congenital myopathy and hypospadias
identified three different nonsense mutations of CXorf6 in individuals with hypospadias
CXorf6 transactivates the Hes3 (show HES3 Antibodies) promoter, augments testosterone production
MAMLD1 likely participates in functional luteolysis by regulating Stat5b (show STAT5B Antibodies) 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 Antibodies) expression primarily in Leydig cells and permit to produce a sufficient amount of testosterone for male sex development, independently of the Hes3 (show HES3 Antibodies)-related non-canonical Notch (show NOTCH1 Antibodies) signaling
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