FABP7

Chr 6

fatty acid binding protein 7

Also known as: B-FABP, BLBP, FABPB, MRG

The gene encodes a small, highly conserved cytoplasmic protein that bind long-chain fatty acids and other hydrophobic ligands. The encoded protein is important in the establishment of the radial glial fiber in the developing brain. Alternative splicing and promoter usage results in multiple transcript variants encoding different isoforms. Pseudogenes of this gene are found on multiple chromosomes. [provided by RefSeq, Jan 2016]

ResearchGenerating clinical summary…
0
Active trials
61
Pubs (1 yr)
P/LP submissions
P/LP missense
1.65
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.65LOEUF
pLI 0.001
Z-score 0.40
OE 0.83 (0.431.65)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.65Z-score
OE missense 0.78 (0.630.98)
54 obs / 69.1 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.83 (0.431.65)
00.351.4
Missense OE?0.78 (0.630.98)
00.61.4
Synonymous OE?0.68
01.21.6
LoF obs/exp: 5 / 6.1Missense obs/exp: 54 / 69.1Syn Z: 1.21

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

FABP7 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →