Molecular weight (DA)
85kD
Immunogen
Synthesized peptide derived from human MAMD1 AA range: 189-239
Specificity
This antibody detects endogenous levels of MAMD1 at Human/Mouse
Source
Polyclonal, Rabbit,IgG
Formulation
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.356% sodium azide.
Dilution rate
WB 1:500-2000
Purification process (Immunogen)
The antibody was affinity-purified from rabbit serum by affinity-chromatography using specific immunogen.
Background
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],
Function
caution:The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data.,disease:Defects in MAMLD1 are a cause of X-linked hypospadias type 2 (HYSP2) [MIM:300758]. Hypospadias is a common malformation in which the urethra opens on the ventral side of the penis. It is considered a complex disorder with both genetic and environmental factors involved in the pathogenesis. Hypospadias can occur alone on an apparently multifactorial basis or as part of syndromes.,similarity:Belongs to the mastermind family.,tissue specificity:Preferentially expressed in skeletal muscle.,
Gene Name
MAMLD1 CG1 CXorf6
Other name
Mastermind-like domain-containing protein 1 (F18) (Protein CG1)
Human protein sequence Database
Q13495
Mouse protein sequence database
P0C6A2
Rat protein sequence database
Cellular localization
Nucleus . Punctate nuclear localization.
Tissue expression
Expressed in fetal brain, fetal ovary and fetal testis. Expressed in adult brain, ovary, skin, testis, uterus. Highly expressed in skeletal muscle.
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