MLPH |
- 30
Haplo
Score - -5
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- MLPH (HGNC:29643) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- melanophilin
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- No previous names found
- Alias symbols
- l1Rk3, l(1)-3Rk, Slac-2a, ln, exophilin-3, SLAC2-A
- %HI
- 85.56(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 0.86(Read more about gnomAD LOEUF score)
- Cytoband
- 2q37.3
- Genomic Coordinates
-
GRCh37/hg19: chr2:238395053-238463965 NCBI Ensembl UCSC GRCh38/hg38: chr2:237486410-237555322 NCBI Ensembl UCSC - MANE Select Transcript
- NM_024101.7 ENST00000264605.8 (Read more about MANE Select)
- Function
- Rab effector protein involved in melanosome transport. Serves as link between melanosome-bound RAB27A and the motor protein MYO5A. {ECO:0000269|PubMed:12062444}. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-10861
ClinGen Curation ID:
CCID:007470
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype
(30)
Triplosensitivity:
Not Yet Evaluated
Last Evaluated:
08/22/2016
Haploinsufficiency (HI) Score Details
HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype
(Disclaimer)
HI Disease:
- Griscelli syndrome type 3 Monarch
Triplosensitivity (TS) Score Details
TS Evidence Strength:
Not Yet Evaluated (Disclaimer)
Genomic View
Select assembly:
(NC_000002.11)
(NC_000002.12)