This gene encodes a member of the exophilin subfamily of Rab effector proteins. The protein forms a ternary complex with the small Ras-related GTPase Rab27A in its GTP-bound form and the motor protein myosin Va. A similar protein complex in mouse functions to tether pigment-producing organelles called melanosomes to the actin cytoskeleton in melanocytes, and is required for visible pigmentation in the hair and skin. A mutation in this gene results in Griscelli syndrome type 3, which is characterized by a silver-gray hair color and abnormal pigment distribution in the hair shaft. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2013]
Transcription factors with Perturb-seq knockdown data for MLPH. The Binding column indicates whether any binding evidence exists for this TF–gene pair (ChIP-seq or motif footprint peaks). The Mean coef is the average Perturb-seq regression coefficient across active gRNAs (positive = MLPH upregulated upon KD; negative = downregulated). The Outlier column indicates whether this gene is in the top or bottom 5% of all TF knockdown effects.
| TF | Mean coef | Binding | Outlier | TF→Gene link |
|---|
Open chromatin peaks (ATAC-seq) in the genomic neighbourhood of MLPH, linked by TSS proximity or chromatin conformation (Multiome / HiCAR). Each element overlaps at least one TF ChIP-seq binding site — the TFs column shows how many distinct TFs bind that element.
| Accessibility | Element | Dist. to TSS | Link type | TFs |
|---|---|---|---|---|
| chr2:237,474,991–237,476,037 | 11.8 kb | Distal (>10kb) Multiome | 709 | |
| chr2:237,486,474–237,487,637 | 116 bp | At TSS Multiome | 294 | |
| chr2:237,489,576–237,489,791 | 2.3 kb | Proximal (<10kb) | 166 | |
| chr2:237,497,097–237,497,288 | 9.8 kb | Proximal (<10kb) | 29 | |
| chr2:237,512,627–237,513,282 | 4.7 kb | Proximal (<10kb) | 464 | |
| chr2:237,571,806–237,573,114 | 84.9 kb | Distal (>10kb) Multiome HiCAR | 536 | |
| chr2:237,594,513–237,595,741 | 107.8 kb | Distal (>10kb) Multiome | 605 | |
| chr2:237,614,157–237,614,906 | 127.2 kb | Distal (>10kb) Multiome | 629 | |
| chr2:237,626,957–237,628,263 | 140.2 kb | Distal (>10kb) Multiome | 380 | |
| chr2:237,662,692–237,663,153 | 175.6 kb | Distal (>10kb) Multiome | 271 | |
| chr2:237,691,002–237,693,099 | 204.8 kb | Distal (>10kb) Multiome | 713 |
Genomic view of the MLPH locus showing ATAC-seq accessibility and RNA-seq expression across the ESC → DE time course, together with TF binding peaks and element-to-TSS loop connections.