Gene: [04q/FAB2] fatty acid binding protein 2, intestinal; insulin resistance? (fat transport diturbance?); [FABP2 ]
COM | See GEM:02p11/FAB1. |
FAG | See GEM:03q2/RBPC1. |
GEN | [1] The gene length is
3.5 kb. Exons: 4 (103/128, 173, 108, and 312 bp); introns: 3 (1194, 1023,
and 444 bp). The 3'-vicinity is flanked by an Alu-repeat (Sweetser-1987).
[2] The length of the mature transcript is 0.72 kb. The protein consists of 132 amino acids (MM 15.1 kD)." |
ASS | [1] An association
between insulin resistance and homozygosity or heterozygosity for the
threonine-encoding allele among Pima Indians in Arizona was found
(Baier-1995). [2] Hegele et al. hypothesized that allelic variation in the amino acid sequence of the FABP2 could be related to variation in body mass index (BMI) and associated clinical phenotypes in aboriginal Canadians. Their findings suggest that the FABP2-T54 variant is associated with differences in fat metabolism in this aboriginal population (Hegele-1996)." |
REF | MUT,ASS,PHE "Baier LJ &: J Clin Invest, 95,
1281-1287, 1995 MUT,ASS,PHE "Hegele RA &: J Clin Endocrinol Metab, 81, 4334-4337, 1996 LIN,ASS,PHE "Prochazka M &: Diabetes, 42, 514-519, 1993 LOC,FAG "Sparkes RS &: CCG, 46, (HGM9), 697, 1987 GEN,SEQ,EVO,FAG,EXP "Sweetser DA &: JBC, 262, 16060-16071, 1987 |
SWI | SWISSPROT: P12104 |
KEY | git, lip, trp |
CLA | coding, basic |
LOC | 04 q28-31 |
MIM | MIM: 134640 |
SYN | FABP2 |
