Primary Identifier | MGI:2176380 | Organism | mouse, laboratory |
Chromosome | 1 | NCBI Gene Number | 171531 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables cytoskeletal protein binding activity; molecular adaptor activity; and small GTPase binding activity. Acts upstream of or within melanocyte differentiation; melanosome localization; and protein targeting. Located in cytoskeleton and melanosome. Part of unconventional myosin complex. Is expressed in several structures, including genitourinary system; gut; hemolymphoid system gland; liver; and musculature. Human ortholog(s) of this gene implicated in Griscelli syndrome type 3. Orthologous to human MLPH (melanophilin). PHENOTYPE: Homozygous targeted null mutants affect viability and body size, and result in abnormal lungs, kidneys, immune system, hematopoiesis, myelopoiesis, and anomalies in cerebellar foliation and neuronal cell layer development. [provided by MGI curators] |