Melanophilin is a
carrier protein which in humans is encoded by the MLPHgene.[5][6] Several
alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined.
Function
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.[7] A similar protein complex in mouse functions to tether pigment-producing organelles called
melanosomes to the
actincytoskeleton in melanocytes, and is required for visible pigmentation in the hair and skin.[8]
In melanocytic cells MLPH gene expression may be regulated by
MITF.[9]
Clinical significance
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.
Mutations in melanophilin cause the "dilute" coat color phenotype in dogs[10] and cats.[11] Variation in this gene appears to have been a target for recent
natural selection in humans, and it has been hypothesized that this is due to a role in human pigmentation.[12]
^Ishida Y, David VA, Eizirik E, Schäffer AA, Neelam BA, Roelke ME, Hannah SS, O'brien SJ, Menotti-Raymond M (December 2006). "A homozygous single-base deletion in MLPH causes the dilute coat color phenotype in the domestic cat". Genomics. 88 (6): 698–705.
doi:
10.1016/j.ygeno.2006.06.006.
PMID16860533.
Lukusa T, Vermeesch JR, Holvoet M, et al. (2004). "Deletion 2q37.3 and autism: molecular cytogenetic mapping of the candidate region for autistic disorder". Genet. Couns. 15 (3): 293–301.
PMID15517821.
Melanophilin is a
carrier protein which in humans is encoded by the MLPHgene.[5][6] Several
alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined.
Function
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.[7] A similar protein complex in mouse functions to tether pigment-producing organelles called
melanosomes to the
actincytoskeleton in melanocytes, and is required for visible pigmentation in the hair and skin.[8]
In melanocytic cells MLPH gene expression may be regulated by
MITF.[9]
Clinical significance
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.
Mutations in melanophilin cause the "dilute" coat color phenotype in dogs[10] and cats.[11] Variation in this gene appears to have been a target for recent
natural selection in humans, and it has been hypothesized that this is due to a role in human pigmentation.[12]
^Ishida Y, David VA, Eizirik E, Schäffer AA, Neelam BA, Roelke ME, Hannah SS, O'brien SJ, Menotti-Raymond M (December 2006). "A homozygous single-base deletion in MLPH causes the dilute coat color phenotype in the domestic cat". Genomics. 88 (6): 698–705.
doi:
10.1016/j.ygeno.2006.06.006.
PMID16860533.
Lukusa T, Vermeesch JR, Holvoet M, et al. (2004). "Deletion 2q37.3 and autism: molecular cytogenetic mapping of the candidate region for autistic disorder". Genet. Couns. 15 (3): 293–301.
PMID15517821.