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Rabbit Anti-CXorf6 antibody
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]
Function:
HypospadiasCXorf6 is a protein predicted based on an ORF found in chromosome 14 Preferentially expressed in skeletal muscle. Defects in CXorf6 are a cause of 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.
Subcellular Location:
Nucleus. Note=Punctate nuclear localization.
Tissue Specificity:
Expressed in fetal brain, fetal ovary and fetal testis. Expressed in adult brain, ovary, skin, testis, uterus. Highly expressed in skeletal muscle.
DISEASE:
Hypospadias 2, X-linked (HYSP2) [MIM:300758]: 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. Note=The disease is caused by mutations affecting the gene represented in this entry.
SWISS:
Q13495
Gene ID:
10046
Database links:
Entrez Gene: 10046 Human
Omim: 300120 Human
SwissProt: Q13495 Human
Unigene: 20136 Human
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