LPAR6 - Lysophosphatidic acid receptor 6 - human protein (Medical)
 
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Protein
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LPAR6 »  Lysophosphatidic acid receptor 6  (LPA-6)
 
Protein also known as:  Oleoyl-L-alpha-lysophosphatidic acid receptor.
Gene name:  LPAR6
Entry whose protein(s) existence is based on evidence at protein level
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1 36 1
GENE REF ISO

Displayed isoform: Iso 1

 
 

Medical

 show evidences
Disease 
Woolly hair autosomal recessive 1 with or without hypotrichosis (ARWH1) [MIM:278150]: A hair shaft disorder characterized by fine and tightly curled hair. Compared to normal curly hair that is observed in some populations, woolly hair grows slowly and stops growing after a few inches. Under light microscopy, woolly hair shows some structural anomalies, including trichorrhexis nodosa and tapered ends. Some individuals exhibit features of hypotrichosis. The disease is caused by mutations affecting the gene represented in this entry.  
  • CuratedUniProtKB
Hypotrichosis 8 (HYPT8) [MIM:278150]: A condition characterized by the presence of less than the normal amount of hair and abnormal hair follicles and shafts, which are thin and atrophic. The disorder affects the trunk and extremities as well as the scalp, and the eyebrows and eyelashes may also be involved, whereas beard, pubic, and axillary hairs are largely spared. In addition, patients can develop hyperkeratotic follicular papules, erythema, and pruritus in affected areas. In some patients with congenital hypotrichosis, monilethrix-like hairs showing elliptical nodes have been observed. The disease is caused by mutations affecting the gene represented in this entry.  
  • CuratedUniProtKB
According to Orphanet, this protein is involved in the following diseases:
Hypotrichosis simplex  55654  
Woolly hair  170  
 

Keywords

Disease 
Disease mutation  definition   [KW-0225]
Hypotrichosis  definition   [KW-1063]
Technical term 
Reference proteome  definition   [KW-1185]
 

Further external links

Organism-specific databases
CTD: 10161
MIM: 278150
PharmGKB: PA165505129
Polymorphism databases
DMDM: 34223726
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.