alternative products:Additional isoforms seem to exist,disease:Defects in HR are the cause of alopecia universalis congenita (ALUNC) [MIM:203655]. ALUNC is a rare autosomal recessive form of hair loss characterized by hair follicles without hair.,disease:Defects in HR are the cause of atrichia with papular lesions (APL) [MIM:209500]; also known as congenital atrichia. APL is an autosomal recessive disease characterized by papillary lesions over most of the body and almost complete absence of hair.,function:May act as a transcription factor that could act on to regulate one of the phases of hair growth.,similarity:Contains 1 JmjC domain.,tissue specificity:Strongest expression of isoforms 1 and 2 is seen in the small intestine, weaker expression in brain and colon, and trace expression is found in liver, pancreas, spleen, thymus, stomach, salivary gland, appendix and trachea. Isoform 1 is always the most abundant. Isoform 1 is exclusively expressed at low levels in kidney and testis and isoform 2 exclusively at high levels in the skin.,
Nucleus.
Strongest expression of isoforms 1 and 2 is seen in the small intestine, weaker expression in brain and colon, and trace expression is found in liver, pancreas, spleen, thymus, stomach, salivary gland, appendix and trachea. Isoform 1 is always the most abundant. Isoform 1 is exclusively expressed at low levels in kidney and testis. Isoform 2 is exclusively expressed at high levels in the skin.
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