LPAR6 Antibody – Rabbit Polyclonal

The protein encoded by this gene belongs to the family of G-protein coupled receptors, that are preferentially activated by adenosine and uridine nucleotides. This gene aligns with an internal intron of the retinoblastoma susceptibility gene in the reverse orientation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2009]

P2RY5: Binds to oleoyl-L-alpha-lysophosphatidic acid (LPA). Intracellular cAMP is involved in the receptor activation. Important for the maintenance of hair growth and texture. Defects in LPAR6 are the cause of woolly hair autosomal recessive type 1 with or without hypotrichosis (ARWH1). 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. Defects in LPAR6 are the cause of hypotrichosis type 8 (HYPT8). A condition characterized by the presence of less than the normal amount of hair. Affected individuals show progressive hair loss, thinning of scalp hair since early childhood, sparse body hair, and sparse eyebrows and eyelashes in some cases. Belongs to the G-protein coupled receptor 1 family.

Protein type: Membrane protein, multi-pass; GPCR, family 1; Receptor, GPCR; Membrane protein, integral

Chromosomal Location of Human Ortholog: 13q14

Cellular Component: integral to membrane; plasma membrane

Molecular Function: G-protein coupled receptor activity

Biological Process: G-protein coupled receptor protein signaling pathway

Disease: Hypotrichosis 8