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.,
Nucleus . Punctate nuclear localization.
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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