产品名称
MAMD1 Rabbit Polyclonal Antibody
别名
Mastermind-like domain-containing protein 1 (F18) (Protein CG1)
存储缓冲液
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.356% New type preservative N.
Human Gene Link
https://www.uniprot.org/uniprot/10046
Human Swissprot No.
Q13495
Human Swissprot Link
https://www.uniprot.org/uniprotkb/Q13495/entry
Mouse Gene Link
https://www.uniprot.org/uniprot/333639
Mouse Swissprot No.
P0C6A2
Mouse Swissprot Link
https://www.uniprot.org/uniprotkb/P0C6A2
免疫原
Synthesized peptide derived from human MAMD1 AA range: 189-239
特异性
This antibody detects endogenous levels of MAMD1 at Human/Mouse
宿主
Polyclonal, Rabbit,IgG
背景介绍
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],
组织表达
Expressed in fetal brain, fetal ovary and fetal testis. Expressed in adult brain, ovary, skin, testis, uterus. Highly expressed in skeletal muscle.
细胞定位
Nucleus . Punctate nuclear localization.
功能
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.,
纯化
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
