Gene: RAB9B

Alternate names for this Gene: RAB9L|Rab-9L

Gene Summary: This gene encodes a member of a subfamily of RAS small guanosine triphosphate (GTP)-binding proteins that regulate membrane trafficking. The encoded protein may be involved in endosome-to-Golgi transport.

Gene is located in Chromosome: X

Location in Chromosome : Xq22.2

Description of this Gene: RAB9B, member RAS oncogene family

Type of Gene: protein-coding

Gene: PLP1

Alternate names for this Gene: GPM6C|HLD1|MMPL|PLP|PLP/DM20|PMD|SPG2

Gene Summary: This gene encodes a transmembrane proteolipid protein that is the predominant component of myelin. The encoded protein may play a role in the compaction, stabilization, and maintenance of myelin sheaths, as well as in oligodendrocyte development and axonal survival. Mutations in this gene cause Pelizaeus-Merzbacher disease and spastic paraplegia type 2. Alternatively splicing results in multiple transcript variants, including the DM20 splice variant.

Gene is located in Chromosome: X

Location in Chromosome : Xq22.2

Description of this Gene: proteolipid protein 1

Type of Gene: protein-coding

rs864622194 in RAB9B;PLP1 gene and Dysmorphic features PMID 16778599 2006 Quantifying the carrier female phenotype in Pelizaeus-Merzbacher disease.

PMID 2479017 1989 Mutation of the proteolipid protein gene PLP in a human X chromosome-linked myelin disorder.

PMID 15627202 2005 PLP1-related inherited dysmyelinating disorders: Pelizaeus-Merzbacher disease and spastic paraplegia type 2.

PMID 9418954 1997 Redefining the lipophilin family of proteolipid proteins.

PMID 17568416 2007 Pelizaeus-Merzbacher syndrome: neurocognitive function in a family with carrier manifestations.

PMID 8520726 1995 Neuropathology and genetics of Pelizaeus-Merzbacher disease.

PMID 7541901 1995 The proteolipid protein gene.

PMID 27179222 2016 Pelizaeus-Merzbacher disease in patients with molecularly confirmed diagnosis.

PMID 8780101 1996 Refined genetic mapping and proteolipid protein mutation analysis in X-linked pure hereditary spastic paraplegia.

PMID 11761472 2001 Compensating for central nervous system dysmyelination: females with a proteolipid protein gene duplication and sustained clinical improvement.

PMID 16130097 2005 Primary progressive multiple sclerosis as a phenotype of a PLP1 gene mutation.

PMID 11093273 2000 Genotype-phenotype correlation in inherited brain myelination defects due to proteolipid protein gene mutations. Clinical European Network on Brain Dysmyelinating Disease.

rs864622194 in RAB9B;PLP1 gene and Muscle hypotonia PMID 27179222 2016 Pelizaeus-Merzbacher disease in patients with molecularly confirmed diagnosis.

PMID 11761472 2001 Compensating for central nervous system dysmyelination: females with a proteolipid protein gene duplication and sustained clinical improvement.

PMID 8780101 1996 Refined genetic mapping and proteolipid protein mutation analysis in X-linked pure hereditary spastic paraplegia.

PMID 17568416 2007 Pelizaeus-Merzbacher syndrome: neurocognitive function in a family with carrier manifestations.

PMID 16778599 2006 Quantifying the carrier female phenotype in Pelizaeus-Merzbacher disease.

PMID 16130097 2005 Primary progressive multiple sclerosis as a phenotype of a PLP1 gene mutation.

PMID 2479017 1989 Mutation of the proteolipid protein gene PLP in a human X chromosome-linked myelin disorder.

PMID 7541901 1995 The proteolipid protein gene.

PMID 9418954 1997 Redefining the lipophilin family of proteolipid proteins.

PMID 15627202 2005 PLP1-related inherited dysmyelinating disorders: Pelizaeus-Merzbacher disease and spastic paraplegia type 2.

PMID 8520726 1995 Neuropathology and genetics of Pelizaeus-Merzbacher disease.

PMID 11093273 2000 Genotype-phenotype correlation in inherited brain myelination defects due to proteolipid protein gene mutations. Clinical European Network on Brain Dysmyelinating Disease.

rs132630278 in RAB9B;PLP1 gene and Pelizaeus-Merzbacher Disease PMID 9633722 1998 Duplication of the proteolipid protein gene is the major cause of Pelizaeus-Merzbacher disease.

PMID 9008538 1997 Mutations in the proteolipid protein gene in Japanese families with Pelizaeus-Merzbacher disease.

PMID 9482656 1998 Jimpy(msd) mouse mutation and connatal Pelizaeus-Merzbacher disease.

PMID 8037216 1994 Comparison of statistics for candidate-gene association studies using cases and parents.

PMID 9747038 1998 Connatal Pelizaeus-Merzbacher disease: a missense mutation in exon 4 of the proteolipid protein (PLP) gene.

PMID 7573159 1995 Pelizaeus-Merzbacher disease caused by a de novo mutation that originated in exon 2 of the maternal great-grandfather of the propositus.

PMID 7683951 1993 A missense mutation in the proteolipid protein gene responsible for Pelizaeus-Merzbacher disease in a Japanese family.

PMID 2480601 1989 Pelizaeus-Merzbacher disease: tight linkage to proteolipid protein gene exon variant.

PMID 2773936 1989 Pelizaeus-Merzbacher disease: an X-linked neurologic disorder of myelin metabolism with a novel mutation in the gene encoding proteolipid protein.

PMID 9894878 1999 Pelizaeus-Merzbacher disease: three novel mutations and implication for locus heterogeneity.

PMID 7531827 1995 A novel mutation in exon 3 of the proteolipid protein gene in Pelizaeus-Merzbacher disease.

PMID 11093273 2000 Genotype-phenotype correlation in inherited brain myelination defects due to proteolipid protein gene mutations. Clinical European Network on Brain Dysmyelinating Disease.

PMID 10417279 1999 Proteolipoprotein gene analysis in 82 patients with sporadic Pelizaeus-Merzbacher Disease: duplications, the major cause of the disease, originate more frequently in male germ cells, but point mutations do not. The Clinical European Network on Brain Dysmyelinating Disease.

PMID 7541731 1995 Pelizaeus-Merzbacher disease: a point mutation in exon 6 of the proteolipid protein (PLP) gene.

PMID 1707231 1991 A new mutation in the proteolipid protein (PLP) gene in a German family with Pelizaeus-Merzbacher disease.

PMID 7539213 1995 In-frame deletion in the proteolipid protein gene of a family with Pelizaeus-Merzbacher disease.

PMID 2479017 1989 Mutation of the proteolipid protein gene PLP in a human X chromosome-linked myelin disorder.

PMID 10425042 1999 A novel mutation (A246T) in exon 6 of the proteolipid protein gene associated with connatal Pelizaeus-Merzbacher disease.

PMID 1384324 1992 Pelizaeus-Merzbacher disease: detection of mutations Thr181----Pro and Leu223----Pro in the proteolipid protein gene, and prenatal diagnosis.

PMID 9934976 1999 Different mutations in the same codon of the proteolipid protein gene, PLP, may help in correlating genotype with phenotype in Pelizaeus-Merzbacher disease/X-linked spastic paraplegia (PMD/SPG2).

PMID 7683951 1993 Direct sequencing of the PLP gene and PLP mRNAs from the brain of the PMD patient revealed a G to T transition in exon V of the PLP gene, which leads to a glycine to cysteine substitution at residue 220.

PMID 26633545 2016 Molecular diagnostic experience of whole-exome sequencing in adult patients.

PMID 12910435 2003 Degree of hypomyelination and magnetic resonance spectroscopy findings in patients with Pelizaeus Merzbacher phenotype.

rs132630288 in RAB9B;PLP1 gene and SPASTIC PARAPLEGIA 2, X-LINKED (disorder) PMID 10319897 1999 Novel exon 3B proteolipid protein gene mutation causing late-onset spastic paraplegia type 2 with variable penetrance in female family members.

PMID 17438221 2007 Steroid-responsive neurologic relapses in a child with a proteolipid protein-1 mutation.

PMID 8780101 1996 Refined genetic mapping and proteolipid protein mutation analysis in X-linked pure hereditary spastic paraplegia.

PMID 8956049 1996 A novel mutation in exon 6 (F236S) of the proteolipid protein gene is associated with spastic paraplegia.

PMID 24103481 2014 A novel mutation in PLP1 causes severe hereditary spastic paraplegia type 2.

PMID 8012387 1994 X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein locus.

PMID 9489796 1998 X-linked spastic paraplegia due to a mutation (C506T; Ser169Phe) in exon 4 of the proteolipid protein gene (PLP).

PMID 15450775 2004 A case of complicated spastic paraplegia 2 due to a point mutation in the proteolipid protein 1 gene.

PMID 11093273 2000 Genotype-phenotype correlation in inherited brain myelination defects due to proteolipid protein gene mutations. Clinical European Network on Brain Dysmyelinating Disease.

PMID 7522741 1994 The rumpshaker mutation in spastic paraplegia.

PMID 9056547 1997 Nonsense mutation in exon 3 of the proteolipid protein gene (PLP) in a family with an unusual form of Pelizaeus-Merzbacher disease.