HR
Domain
Contains two Leu-Xaa-Xaa-Leu-Leu (LXXLL) motifs. The LXXLL motifs are essential for the association with nuclear receptors (By similarity).
The JmjC domain and the C6-type zinc-finger are required for the demethylation activity.
Function
Histone demethylase that specifically demethylates both mono- and dimethylated 'Lys-9' of histone H3. May act as a transcription regulator controlling hair biology (via targeting of collagens), neural activity, and cell cycle.
Involvement in disease
Alopecia universalis congenita
ALUNC
A rare disorder characterized by loss of hair from the entire body. No hair are present in hair follicles on skin biopsy.
None
The disease is caused by variants affecting the gene represented in this entry.
Atrichia with papular lesions
APL
An autosomal recessive disease characterized by papillary lesions over most of the body and almost complete absence of hair.
None
The disease is caused by variants affecting the gene represented in this entry.
Hypotrichosis 4
HYPT4
An autosomal dominant condition characterized by reduced amount of hair, alopecia, little or no eyebrows, eyelashes or body hair, and coarse, wiry, twisted hair in early childhood.
None
The disease is caused by variants affecting the gene represented in this entry.
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. Isoform 2 is exclusively expressed at high levels in the skin.
Cellular localization
- Nucleus
Alternative names
Lysine-specific demethylase hairless, [histone H3]-dimethyl-L-lysine(9) demethylase hairless, HR