|Institutional Source||Beutler Lab|
|Gene Name||fatty acid binding protein 5, epidermal|
|Synonyms||Klbp, Unknown Klbp, keratinocyte lipid binding protein, mal1, Fabpe E-FABP|
|Essential gene?||Not available|
|Stock #||R6020 (G1)|
|Chromosomal Location||10012548-10016607 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 10016089 bp (GRCm38)|
|Amino Acid Change||Threonine to Isoleucine at position 126 (T126I)|
|Ref Sequence||ENSEMBL: ENSMUSP00000029046 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000029046]|
Murine epidermal fatty acid-binding protein (FABP5), apo form, poly- his tag-mediated crystal packing [X-RAY DIFFRACTION]
Murine epidermal fatty acid-binding protein (FABP5), apo form, poly- his tag removed [X-RAY DIFFRACTION]
Murine epidermal fatty acid-binding protein (FABP5) in complex with the endocannabinoid anandamide [X-RAY DIFFRACTION]
Murine epidermal fatty acid-binding protein (FABP5) in complex with the endocannabinoid 2-arachidonoylglycerol [X-RAY DIFFRACTION]
AA Change: T126I
PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
AA Change: T126I
|Coding Region Coverage||
FUNCTION: The protein encoded by this gene is part of the fatty acid binding protein family (FABP). FABPs are a family of small, highly conserved, cytoplasmic proteins that bind long-chain fatty acids and other hydrophobic ligands and participate in fatty acid uptake, transport, and metabolism. In humans this gene has been associated with psoriasis and type 2 diabetes. In mouse deficiency of this gene in combination with a deficiency in Fabp4 confers protection against atherosclerosis, diet-induced obesity, insulin resistance and experimental autoimmune encephalomyelitis (the mouse model for multiple sclerosis). Alternative splicing results in multiple transcript variants that encode different protein isoforms. The mouse genome contains many pseudogenes similar to this locus. [provided by RefSeq, Jan 2013]
PHENOTYPE: Mice homozygous for disruptions in this gene, depending on allele, display impaired skin barrier function or resistance to diet-induced obesity, showing decreased adipose tissue and imporved glucose tolerance and insulin sensitivity. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Fabp5||
(F):5'- AGTGCTTTAGTCTGCAGGGC -3'
(R):5'- CAAGTTTGACATGAAGGTCCATG -3'
(F):5'- GCAGGGCAGCAAATATACATATAAAC -3'
(R):5'- CATGAAGGTCCATGTAAAGTGTTTG -3'