hypopigmentation Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description A reduction of skin color related to a decrease in melanin production and deposition. (Human Phenotype Ontology, HP_0001010)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0005408
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Genes

43 gene mutations causing the hypopigmentation phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
AEBP2 AE binding protein 2
AP3B1 adaptor-related protein complex 3, beta 1 subunit
AP3D1 adaptor-related protein complex 3, delta 1 subunit
ATOX1 antioxidant 1 copper chaperone
ATP7B ATPase, Cu++ transporting, beta polypeptide
BCL2 B-cell CLL/lymphoma 2
BLOC1S3 biogenesis of lysosomal organelles complex-1, subunit 3
BLOC1S4 biogenesis of lysosomal organelles complex-1, subunit 4, cappuccino
BLOC1S6 biogenesis of lysosomal organelles complex-1, subunit 6, pallidin
DTNBP1 dystrobrevin binding protein 1
FIG4 FIG4 phosphoinositide 5-phosphatase
GLI3 GLI family zinc finger 3
HPS1 Hermansky-Pudlak syndrome 1
HPS5 Hermansky-Pudlak syndrome 5
HPS6 Hermansky-Pudlak syndrome 6
KDELR1 KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 1
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
KITLG KIT ligand
LYST lysosomal trafficking regulator
MAGOH mago-nashi homolog, proliferation-associated (Drosophila)
MBTPS1 membrane-bound transcription factor peptidase, site 1
MC1R melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)
MITF microphthalmia-associated transcription factor
MYO10 myosin X
MYO5A myosin VA (heavy chain 12, myoxin)
NF1 neurofibromin 1
OCA2 oculocutaneous albinism II
PAH phenylalanine hydroxylase
PAX3 paired box 3
PAX6 paired box 6
PCBD1 pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha
RAB27A RAB27A, member RAS oncogene family
RAB38 RAB38, member RAS oncogene family
SEMA3C sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C
SEMA4A sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A
SLC24A5 solute carrier family 24 (sodium/potassium/calcium exchanger), member 5
SLC45A2 solute carrier family 45, member 2
SOX10 SRY (sex determining region Y)-box 10
TBX19 T-box 19
TYR tyrosinase
TYRP1 tyrosinase-related protein 1
VPS33A vacuolar protein sorting 33 homolog A (S. cerevisiae)
VSX2 visual system homeobox 2