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Protein-coding gene in the species Homo sapiens
O-acyltransferase ABHD5, also known as comparative gene identification-58 (CGI-58), is an enzyme that in humans is encoded by the ABHD5 gene. The protein
ABHD5
Metabolism involving breakdown of lipids
ATGL co-activator, comparative gene identification 58 (CGI-58) (a.k.a. ABHD5). When perilipin 1A is phosphorylated by PKA, it releases CGI-58 and it
Lipolysis
Family of disorders causing dry, thickened, scaly skin
Neutral lipid storage disease with ichthyosis 275630 Autosomal recessive ABHD5 Ichthyosis prematurity syndrome 608649 Autosomal recessive SLC27A4 Neu–Laxova
Ichthyosis
Persistent vacuolation of white blood cells
which produces the enzyme adipose triglyceride lipase (ATGL), and the ABHD5 gene, which encodes a cofactor of ATGL. These mutations lead to defective
Jordans'_anomaly
Protein family
proteins. 3-oxoadipate enol-lactonase InterPro: IPR012790 ABHD2; ABHD3; ABHD4; ABHD5; ABHD6; ABHD7; ABHD8; ABHD9; ABHD10; ABHD11; ABHD12; ABHD12B; ABHD13; ABHD16B;
Alpha/beta hydrolase superfamily
Alpha/beta_hydrolase_superfamily
Mammalian protein found in Homo sapiens
previously stored fats. from amino acid 185 to 463: interactions with PNPLA2 and ABHD5. from amino acid 444 to 463: targets mitochondria for lipid droplet-mitochondria
Perilipin-5
Mammalian protein found in humans
lipid storage diseases and ATGL (adipose triglyceride lipase) and CGI-58/ABHD5 (alpha-beta hydrolase domain-containing 5) deficiency: myopathy, ichthyosis
Adipose_triglyceride_lipase
Protein-coding gene in humans
Saccharomyces cerevisiae. It clusters with lipolysis regulator genes such as ABHD5 and PNPLA2. CLCC1 is located in the membranes of intracellular compartments
CLCC1
ABHD2 HGNC:18717; P08910 78 ABHD3 HGNC:18718; Q8WU67 79 ABHD4 HGNC:20154 80 ABHD5 HGNC:21396; Q8WTS1 81 ABHD6 HGNC:21398; Q9BV23 82 ABHD8 HGNC:23759; Q96I13
List of human protein-coding genes 1
List_of_human_protein-coding_genes_1
Cervical cancer, somatic; 603956; FGFR3 Chanarin–Dorfman syndrome; 275630; ABHD5 Char syndrome; 169100; TFAP2B Charcot–Marie–Tooth disease, axonal, type
List_of_OMIM_disorder_codes
ABHD5
ABHD5
ABHD5
ABHD5
Boy/Male
Tamil
Sun, Moon
Girl/Female
Hindu, Indian, Malayalam, Tamil, Telugu
Full Moon
Girl/Female
Gujarati, Hindu, Indian
Freedom
Girl/Female
Indian
Beautiful creeper
Male
Japanese
(ä¹éƒŽ) Japanese name KUROU means "ninth son."
Girl/Female
Tamil
Sacred plant, A sacred plant (Basil)
Boy/Male
Indian, Punjabi, Sikh
Lotus-light
Boy/Male
Hindu, Indian
Full Moon
Girl/Female
Arabic, Muslim
Brilliant; Splendid; Eastern Wind
Boy/Male
English
Huntsman.
ABHD5
ABHD5
ABHD5
ABHD5
ABHD5