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


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Summary

Host Animal
Mouse
Specificity
Human
Clone
4B4
Antibody Isotype
IgG1, κ
Application
WB, ELISA

Basic Information

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.

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.
More Infomation

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

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