Patatin-Like phospholipase Domain Containing 1 (PNPLA1) ELISA Kits

The protein encoded by PNPLA1 belongs to the patatin-like phospholipase (PNPLA) family, which is characterized by the presence of a highly conserved patatin domain. Additionally we are shipping PNPLA1 Antibodies (38) and PNPLA1 Proteins (2) and many more products for this protein.

list all ELISA KIts Gene Name GeneID UniProt
Anti-Human PNPLA1 PNPLA1 285848 Q8N8W4
Anti-Mouse PNPLA1 PNPLA1 433091 Q3V1D5
Anti-Rat PNPLA1 PNPLA1 361812  
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More ELISA Kits for PNPLA1 Interaction Partners

Human Patatin-Like phospholipase Domain Containing 1 (PNPLA1) interaction partners

  1. Data support that PNPLA1/Pnpla1 is a key player in the formation of omega-O-acylceramide, a crucial process for the epidermal permeability barrier function.

  2. analysis of distinct and previously unreported mutations in the PNPLA1 gene in nine extended consanguineous families with autosomal recessive congenital ichthyosis (show LBR ELISA Kits)

  3. an essential role of PNPLA1 in the synthesis of omega-O-AcylCers in human and murine skin.

  4. the variant identified will expand the spectrum of mutations in the PNPLA1 gene, provides more evidence for lack of genotype-phenotype correlation and clinical variability in PNPLA1 and underscores its role in causing autosomal recessive congenital ichthyosis (show LBR ELISA Kits)

  5. Letter: novel missense PNPLA1 variant causing autosomal recessive congenital ichthyosis (show LBR ELISA Kits) in a Pakistani family.

  6. Results show that PNPLA1 missense mutations observed in this European family affect the patanin-like domain

  7. One missense and one nonsense mutation in the catalytic domain of human PNPLA1 were found in six individuals with autosomal recessive congenital ichthyoses from two families.

  8. PNPLA1 exhibited a modest effect on obesity

Mouse (Murine) Patatin-Like phospholipase Domain Containing 1 (PNPLA1) interaction partners

  1. an essential role of PNPLA1 in the synthesis of omega-O-AcylCers in human and murine skin.

  2. results indicate PNPLA1 is a skin-specific and membrane-associated protein (show PDZK1IP1 ELISA Kits), suggesting that it may mainly play a role in the skin

PNPLA1 Antigen Profile

Antigen 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.

Gene names and symbols associated with PNPLA1

  • patatin-like phospholipase domain containing 1 (PNPLA1) antibody
  • patatin-like phospholipase domain containing 1 (Pnpla1) antibody
  • ARCI10 antibody
  • dJ50J22.1 antibody

Protein level used designations for PNPLA1

patatin-like phospholipase domain-containing protein 1

GENE ID SPECIES
285848 Homo sapiens
433091 Mus musculus
361812 Rattus norvegicus
481763 Canis lupus familiaris
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