HR

GENE INFORMATION

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Gene name

HR (HGNC Symbol)

Synonyms

ALUNC, AU

Description

Hair growth associated (HGNC Symbol)

Entrez gene summary

This gene encodes a protein that is involved in hair growth. This protein functions as a transcriptional corepressor of multiple nuclear receptors, including thyroid hormone receptor, the retinoic acid receptor-related orphan receptors and the vitamin D receptors, and it interacts with histone deacetylases. The translation of this protein is modulated by a regulatory open reading frame (ORF) that exists upstream of the primary ORF. Mutations in this upstream ORF cause Marie Unna hereditary hypotrichosis (MUHH), an autosomal dominant form of genetic hair loss. Mutations in this gene also cause autosomal recessive congenital alopecia and atrichia with papular lesions, other diseases resulting in hair loss. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2014]

Chromosome

8

Cytoband

p21.3

Chromosome location (bp)

22114415 - 22133384

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000168453 (version 78.38)

Entrez gene

55806

UniProt

O43593 (UniProt - Evidence at protein level)

neXtProt

NX_O43593

Antibodypedia

HR antibodies
 

PROTEIN VIEW

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HR-001
 
HR-008
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

HR-001 ENSP00000370826
ENST00000381418
O43593
Show all »
Show » Show » 1189 127.5 No 0
HR-008 ENSP00000326765
ENST00000312841
O43593
Show all »
Show » Show » 1134 121.9 No 0