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

Name: Mouse Anti-MAMLD1 Recombinant Antibody (4B4)
SKU: CBMAB-A5182-LY
Rating: 5 (1 reviews)

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Datasheet

SDS

Request for COA

Datasheet Target References Q & As Review & reward Protocols Associated Products

Basic Information

Host Animal

Mouse

Clone

4B4

Application

WB, ELISA

Immunogen

MAMLD1 (NP_005482, 603 a.a. ~ 701 a.a) partial recombinant protein with GST tag. MW of the GST tag alone is 26 KDa.

Specificity

Human

Antibody Isotype

IgG1, κ

Clonality

Monoclonal

Application Notes

The COA includes recommended starting dilutions, optimal dilutions should be determined by the end user.

Formulations & Storage [For reference only, actual COA shall prevail!]

Format

Liquid

Purity

> 95% Purity determined by SDS-PAGE.

Storage

Store at +4°C short term (1-2 weeks). Aliquot and store at -20°C long term. Avoid repeated freezethaw cycles.

More Infomation

Target

Full Name

mastermind-like domain containing 1

Entrez Gene ID

10046

UniProt ID

Q13495

Alternative Names

CG1; CXorf6; F18

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.

Wang, J., Sun, Y., Deng, Q., Wang, X., Cai, W., & Chen, Y. (2023). A novel MAMLD1 variant in a newborn with hypospadias and elevated 17-hydroxyprogesterone. Hormones, 1-8.

Wu, F. Y., Yang, R. M., Zhang, H. Y., Zhan, M., Tu, P. H., Fang, Y., ... & Zhao, S. X. (2023). Pathogenic variations in MAML2 and MAMLD1 contribute to congenital hypothyroidism due to dyshormonogenesis by regulating the Notch signalling pathway. Journal of Medical Genetics.

Miyado, M., Fukami, M., & Ogata, T. (2022). MAMLD1 and Differences/Disorders of Sex Development: an update. Sexual Development, 16(2-3), 126-137.

Rossi, S., Barresi, S., Colafati, G. S., Giovannoni, I., Miele, E., Alesi, V., ... & Alaggio, R. (2022). Paediatric astroblastoma‐like neuroepithelial tumour of the spinal cord with a MAMLD1‐BEND2 rearrangement. Neuropathology and Applied Neurobiology, 48(5), e12814.

Qi, J., & Ni, W. (2020). Attenuation of MAMLD1 expression suppresses the growth and migratory properties of Gonadotroph pituitary adenomas. Pathology & Oncology Research, 26(2), 937-946.

Li, L., Su, C., Fan, L., Gao, F., Liang, X., & Gong, C. (2020). Clinical and molecular spectrum of 46, XY disorders of sex development that harbour MAMLD1 variations: case series and review of literature. Orphanet Journal of Rare Diseases, 15(1), 1-9.

Li, L., Gao, F., Fan, L., Su, C., Liang, X., & Gong, C. (2020). Disorders of sex development in individuals harbouring MAMLD1 variants: WES and interactome evidence of oligogenic inheritance. Frontiers in endocrinology, 11, 582516.

Andreiuolo, F., Varlet, P., Tauziède‐Espariat, A., Jünger, S. T., Dörner, E., Dreschmann, V., ... & Pietsch, T. (2019). Childhood supratentorial ependymomas with YAP1‐MAMLD1 fusion: an entity with characteristic clinical, radiological, cytogenetic and histopathological features. Brain Pathology, 29(2), 205-216.

Flück, C. E., Audí, L., Fernández-Cancio, M., Sauter, K. S., Martinez de LaPiscina, I., Castaño, L., ... & Camats, N. (2019). Broad phenotypes of disorders/differences of sex development in MAMLD1 patients through oligogenic disease. Frontiers in genetics, 10, 746.

Krzemińska, P., D'anza, E., Ciotola, F., Paciello, O., Restucci, B., Peretti, V., ... & Switonski, M. (2019). Polymorphisms of MAMLD1, SRD5A2, and AR candidate genes in seven dogs (78, XY; SRY-Positive) affected by hypospadias or cryptorchidism. Sexual Development, 13(2), 92-98.

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Please try the standard protocols which include: protocols, troubleshooting and guide.

Enzyme-linked Immunosorbent Assay (ELISA)
Flow Cytometry
Immunofluorescence (IF)
Immunohistochemistry (IHC)
Immunoprecipitation (IP)
Western Blot (WB)
Enzyme Linked Immunospot (ELISpot)
Proteogenomic
Other Protocols

Isotype control

For research use only. Not intended for any clinical use.

Custom Antibody Labeling

We also offer labeled antibodies developed using our catalog antibody products and nonfluorescent conjugates (HRP, AP, Biotin, etc.) or fluorescent conjugates (Alexa Fluor, FITC, TRITC, Rhodamine, Texas Red, R-PE, APC, Qdot Probes, Pacific Dyes, etc.).

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