MAMLD1

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.

Full Name

mastermind-like domain containing 1

Function

Transactivates the HES3 promoter independently of NOTCH proteins. HES3 is a non-canonical NOTCH target gene which lacks binding sites for RBPJ.

Biological Process

Male gonad developmentManual Assertion Based On ExperimentIEP:UniProtKB
Regulation of transcription by RNA polymerase IIManual Assertion Based On ExperimentIBA:GO_Central

Cellular Location

Nucleus
Punctate nuclear localization.

Involvement in disease

Hypospadias 2, X-linked (HYSP2):
A common malformation in which the urethra opens on the ventral side of the penis, due to developmental arrest of urethral fusion. The opening can be located glandular, penile, or even more posterior in the scrotum or perineum. Hypospadias is a feature of several syndromic disorders, including the androgen insensitivity syndrome and Opitz syndrome.

Anti-MAMLD1 antibodies

Fig.3 Signaling pathways in cancers. (Creative Biolabs Authorized)

Fig.4 Protocols troubleshootings & guides. (Creative Biolabs Authorized)

Mouse Anti-MAMLD1 Recombinant Antibody (4B4) (CBMAB-A5182-LY)

Datasheet

SDS

Target: MAMLD1

Host: Mouse

Antibody Isotype: IgG1, κ

Specificity: Human

Clone: 4B4

Application*: WB, E

More Infomation

For Research Use Only. Not For Clinical Use.

(P): Predicted

* Abbreviations

IFImmunofluorescence

IHImmunohistochemistry

IPImmunoprecipitation

WBWestern Blot

EELISA

MMicroarray

CIChromatin Immunoprecipitation

FFlow Cytometry

FNFunction Assay

IDImmunodiffusion

RRadioimmunoassay

TCTissue Culture

GSGel Supershift

NNeutralization

BBlocking

AActivation

IInhibition

DDepletion

ESELISpot

DBDot Blot

MCMass Cytometry/CyTOF

CTCytotoxicity

SStimulation

AGAgonist

APApoptosis

IMImmunomicroscopy

BABioassay

CSCostimulation

EMElectron Microscopy

IEImmunoelectrophoresis

PAPeptide Array

ICImmunocytochemistry

PEPeptide ELISA

MDMeDIP

SHIn situ hybridization

IAEnzyme Immunoassay

SEsandwich ELISA

PLProximity Ligation Assay

ECELISA(Cap)

EDELISA(Det)

BIBioimaging

IOImmunoassay

LFLateral Flow Immunoassay

LALuminex Assay

CImmunohistochemistry-Frozen Sections

PImmunohistologyp-Paraffin Sections

ISIntracellular Staining for Flow Cytometry

MSElectrophoretic Mobility Shift Assay

RIRNA Binding Protein Immunoprecipitation (RIP)