LAPTM4B
lysosomal protein transmembrane 4 beta
Summary
Enables ceramide binding activity; enzyme binding activity; and phosphatidylinositol bisphosphate binding activity. Involved in several processes, including endosome transport via multivesicular body sorting pathway; negative regulation of macromolecule metabolic process; and regulation of lysosomal membrane permeability. Located in several cellular components, including endosome; lysosomal membrane; and plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]
Known Variants23 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs114241480 | 8:98,788,012 | C/T | — | benign |
| rs760759937 | 8:98,788,061 | C/T | — | uncertain significance |
| rs758063961 | 8:98,788,086 | G/A | — | uncertain significance |
| rs754567791 | 8:98,788,100 | G/A | — | uncertain significance |
| rs760702744 | 8:98,788,154 | C/G | — | uncertain significance |
| rs959939906 | 8:98,788,163 | C/T | — | uncertain significance |
| rs989041979 | 8:98,788,164 | G/C | — | uncertain significance |
| rs757720337 | 8:98,788,207 | C/G | — | likely benign |
| rs142929623 | 8:98,788,260 | C/G | — | uncertain significance |
| rs374973028 | 8:98,788,275 | A/G | — | uncertain significance |
| rs760412892 | 8:98,788,322 | G/C | — | uncertain significance |
| rs115788337 | 8:98,817,631 | G/A | — | benign |
| rs1386816062 | 8:98,828,290 | G/A | — | likely benign |
| rs1816908189 | 8:98,828,300 | G/T | — | uncertain significance |
| rs2487993501 | 8:98,828,304 | A/G | — | uncertain significance |
| rs190105774 | 8:98,828,443 | T/C | intron variant | — |
| rs4410873 | 8:98,829,573 | C/T | intron variant | — |
| rs538196230 | 8:98,831,398 | A/G | — | uncertain significance |
| rs35208727 | 8:98,832,214 | C/G | — | — |
| rs2488007900 | 8:98,837,289 | T/C | — | uncertain significance |
| rs200354688 | 8:98,837,367 | A/G | — | uncertain significance |
| rs369740304 | 8:98,837,374 | A/G | — | uncertain significance |
| rs369048476 | 8:98,837,380 | C/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.