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- Table of Contents
Facts about Patatin-like phospholipase domain-containing protein 1.
Plays a role in glycerophospholipid metabolism. .
Human | |
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Gene Name: | PNPLA1 |
Uniprot: | Q8N8W4 |
Entrez: | 285848 |
Belongs to: |
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No superfamily |
dJ50J22.1; EC 3.1.1.-; FLJ38755; MGC119319; MGC119320; MGC119321; patatin-like phospholipase domain containing 1; patatin-like phospholipase domain-containing protein 1
Mass (kDA):
57.875 kDA
Human | |
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Location: | 6p21.31 |
Sequence: | 6; NC_000006.12 (36242523..36313955) |
Expressed in the digestive system. Expressed in the epidermis of skin keratinocytes. Strongly expressed in the granular layer. Expressed in the upper epidermis and eccrine sweat glands of the dermis and in the region of keratin filament bundles, which is more pronounced in upper epidermal layers and in the lower cornified layers.
Cytoplasm. Clearly distributed in the cytoplasm of keratinocytes.
PMID: 16799181 by Wilson P.A., et al. Characterization of the human patatin-like phospholipase family.
PMID: 22246504 by Grall A., et al. PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans.