PNPLA1 FISH Probe

The protein encoded by this gene belongs to the patatin-like phospholipase (PNPLA) family, which is characterized by the presence of a highly conserved patatin domain. PNPLA family members have diverse lipolytic and acyltransferase activities, and are key elements in lipid metabolism. While other members of this family have been well characterized, the function of this gene remained an enigma. However, recent studies show that this gene is expressed in the skin epidermal keratinocytes, and has a role in glycerophospholipid metabolism in the cutaneous barrier. Consistent with these observations, mutations in this gene are associated with ichthyosis in human (autosomal recessive congenital ichthyoses, ARCI) and dog. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2012]


Gene Details
SKU Test Kits Buffer Dye Color Order Now
PNPLA1-20-RE 20 (40 μL) 200 μL color Request Pricing
PNPLA1-20-OR 20 (40 μL) 200 μL color Request Pricing
PNPLA1-20-GO 20 (40 μL) 200 μL color Request Pricing
PNPLA1-20-GR 20 (40 μL) 200 μL color Request Pricing
PNPLA1-20-AQ 20 (40 μL) 200 μL color Request Pricing

Gene Summary

The protein encoded by this gene belongs to the patatin-like phospholipase (PNPLA) family, which is characterized by the presence of a highly conserved patatin domain. PNPLA family members have diverse lipolytic and acyltransferase activities, and are key elements in lipid metabolism. While other members of this family have been well characterized, the function of this gene remained an enigma. However, recent studies show that this gene is expressed in the skin epidermal keratinocytes, and has a role in glycerophospholipid metabolism in the cutaneous barrier. Consistent with these observations, mutations in this gene are associated with ichthyosis in human (autosomal recessive congenital ichthyoses, ARCI) and dog. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2012]

Gene Details

Gene Symbol : PNPLA1

Gene Name : Patatin like phospholipase domain containing 1

Chromosome : CHR 6: 362,425,22-363,139,54

Locus : 6p21.31

Alt. Genes : RBM12

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