FA2H - fatty acid 2-hydroxylase Gene

Also Known as FAAH; FAH1; SCS7; SPG35; FAXDC1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 79152

About FA2H

Cytogenetic location: 16q23.1 Genomic coordinates (GRCh38): 16:74,712,969-74,774,820 (from NCBI)

This gene has 5 transcripts (splice variants), 211 orthologues and is associated with 4 phenotypes. Biased expression in stomach (RPKM 14.4), brain (RPKM 8.1) and 10 other tissues.

Summary

This gene encodes a protein that catalyzes the synthesis of 2-hydroxysphingolipids, a subset of sphingolipids that contain 2-hydroxy fatty acids. Sphingolipids play roles in many cellular processes and their structural diversity arises from modification of the hydrophobic ceramide moiety, such as by 2-hydroxylation of the N-acyl chain, and the existence of many different head groups. Mutations in this gene have been associated with leukodystrophy dysmyelinating with spastic paraparesis with or without dystonia.[provided by RefSeq, Mar 2010]

FA2H Products (1)

mRNA	Protein	Name
NM_024306.5	NP_077282.3	fatty acid 2-hydroxylase

FA2H Protein Structure

Cyt-b5

FA_hydroxylase

0
100
200
300
372 a.a.

Protein Preferred Names	Protein Names
fatty acid 2-hydroxylase	fatty acid alpha-hydroxylase

FA2H Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Referencias
Intra	FA2H	Q7L5A8	TMEM41A	Homo sapiens	Q96HV5	Y2H Prey Pooling	32296183
Intra	FA2H	Q7L5A8	TMEM41A	Homo sapiens	Q96HV5	Y2H Array	32296183
Intra	FA2H	Q7L5A8	TMEM41A	Homo sapiens	Q96HV5	Validated Y2H	32296183
Intra	FA2H	Q7L5A8	SGPL1	Homo sapiens	O95470	Y2H Prey Pooling	32296183
Intra	FA2H	Q7L5A8	SGPL1	Homo sapiens	O95470	Y2H Array	32296183
Intra	FA2H	Q7L5A8	PGRMC2	Homo sapiens	O15173	Y2H Array	32296183
Intra	FA2H	Q7L5A8	PGRMC2	Homo sapiens	O15173	Y2H Prey Pooling	32296183
Intra	FA2H	Q7L5A8	GPX8	Homo sapiens	Q8TED1	Y2H Prey Pooling	32296183
Intra	FA2H	Q7L5A8	GPX8	Homo sapiens	Q8TED1	Validated Y2H	32296183
Intra	FA2H	Q7L5A8	GPX8	Homo sapiens	Q8TED1	Y2H Array	32296183
Intra	FA2H	Q7L5A8	RIC3	Homo sapiens	Q7Z5B4-5	Y2H Array	32296183
Intra	FA2H	Q7L5A8	RIC3	Homo sapiens	Q7Z5B4-5	Y2H Prey Pooling	32296183
Intra	FA2H	Q7L5A8	RIC3	Homo sapiens	Q7Z5B4-5	Validated Y2H	32296183
Intra	FA2H	Q7L5A8	ASGR2	Homo sapiens	P07307-3	Y2H Prey Pooling	32296183
Intra	FA2H	Q7L5A8	ASGR2	Homo sapiens	P07307-3	Y2H Array	32296183
Intra	FA2H	Q7L5A8	TLCD4	Homo sapiens	Q96MV1	Y2H Prey Pooling	32296183
Intra	FA2H	Q7L5A8	TLCD4	Homo sapiens	Q96MV1	Validated Y2H	32296183
Intra	FA2H	Q7L5A8	TLCD4	Homo sapiens	Q96MV1	Y2H Array	32296183
Intra	FA2H	Q7L5A8	AQP6	Homo sapiens	Q13520	Y2H Prey Pooling	32296183
Intra	FA2H	Q7L5A8	GPR152	Homo sapiens	Q8TDT2	Validated Y2H	32296183
Intra	FA2H	Q7L5A8	GPR152	Homo sapiens	Q8TDT2	Y2H Prey Pooling	32296183
Intra	FA2H	Q7L5A8	GPR152	Homo sapiens	Q8TDT2	Y2H Array	32296183
Intra	FA2H	Q7L5A8	MARCHF8	Homo sapiens	Q5T0T0	Y2H Array	32296183
Intra	FA2H	Q7L5A8	MARCHF8	Homo sapiens	Q5T0T0	Y2H Prey Pooling	32296183
Intra	FA2H	Q7L5A8	MSR1	Homo sapiens	P21757	Y2H Array	32296183
Intra	FA2H	Q7L5A8	MSR1	Homo sapiens	P21757	Y2H Prey Pooling	32296183
Intra	FA2H	Q7L5A8	SLC10A6	Homo sapiens	Q3KNW5	Y2H Prey Pooling	32296183
Intra	FA2H	Q7L5A8	SLC10A6	Homo sapiens	Q3KNW5	Y2H Array	32296183
Intra	FA2H	Q7L5A8	FAM209A	Homo sapiens	Q5JX71	Y2H Array	32296183
Intra	FA2H	Q7L5A8	FAM209A	Homo sapiens	Q5JX71	Y2H Prey Pooling	32296183
Intra	FA2H	Q7L5A8	ELOVL4	Homo sapiens	Q9GZR5	Validated Y2H	32296183
Intra	FA2H	Q7L5A8	ELOVL4	Homo sapiens	Q9GZR5	Y2H Array	32296183
Intra	FA2H	Q7L5A8	ELOVL4	Homo sapiens	Q9GZR5	Y2H Prey Pooling	32296183
Intra	FA2H	Q7L5A8	KLK6	Homo sapiens	Q92876	Validated Y2H	32814053
Intra	FA2H	Q7L5A8	KLK6	Homo sapiens	Q92876	Y2H Array	32814053
Intra	FA2H	Q7L5A8	KLK6	Homo sapiens	Q92876	Y2H Pooling	32814053
Intra	FA2H	Q7L5A8	ERLIN1	Homo sapiens	O75477	Y2H Prey Pooling	32296183
Intra	FA2H	Q7L5A8	ERLIN1	Homo sapiens	O75477	Y2H Array	32296183
Intra	FA2H	Q7L5A8	ARMC12	Homo sapiens	Q5T9G4-2	Y2H Array	32296183
Intra	FA2H	Q7L5A8	ARMC12	Homo sapiens	Q5T9G4-2	Y2H Prey Pooling	32296183
Intra	FA2H	Q7L5A8	EBP	Homo sapiens	Q15125	Y2H Array	32296183
Intra	FA2H	Q7L5A8	EBP	Homo sapiens	Q15125	Y2H Prey Pooling	32296183
Intra	FA2H	Q7L5A8	SLC10A1	Homo sapiens	Q14973	Y2H Array	32296183
Intra	FA2H	Q7L5A8	SLC10A1	Homo sapiens	Q14973	Y2H Prey Pooling	32296183
Intra	FA2H	Q7L5A8	PEX12	Homo sapiens	O00623	Y2H Array	32296183
Intra	FA2H	Q7L5A8	PEX12	Homo sapiens	O00623	Y2H Prey Pooling	32296183
Intra	FA2H	Q7L5A8	TMX2	Homo sapiens	Q9Y320	Y2H Prey Pooling	32296183
Intra	FA2H	Q7L5A8	TMX2	Homo sapiens	Q9Y320	Validated Y2H	32296183
Intra	FA2H	Q7L5A8	TMX2	Homo sapiens	Q9Y320	Y2H Array	32296183
Intra	FA2H	Q7L5A8	CREB3L1	Homo sapiens	Q96BA8	Validated Y2H	32296183
Intra	FA2H	Q7L5A8	CREB3L1	Homo sapiens	Q96BA8	Y2H Array	32296183
Intra	FA2H	Q7L5A8	CREB3L1	Homo sapiens	Q96BA8	Y2H Prey Pooling	32296183
Intra	FA2H	Q7L5A8	CD79A	Homo sapiens	P11912	Y2H Prey Pooling	32296183
Intra	FA2H	Q7L5A8	CD79A	Homo sapiens	P11912	Y2H Array	32296183
Intra	FA2H	Q7L5A8	ERGIC3	Homo sapiens	Q9Y282	Validated Y2H	32296183
Intra	FA2H	Q7L5A8	ERGIC3	Homo sapiens	Q9Y282	Y2H Array	32296183
Intra	FA2H	Q7L5A8	ERGIC3	Homo sapiens	Q9Y282	Y2H Prey Pooling	32296183
Intra	FA2H	Q7L5A8	SYT2	Homo sapiens	Q8N9I0	Y2H Prey Pooling	32296183
Intra	FA2H	Q7L5A8	SYT2	Homo sapiens	Q8N9I0	Validated Y2H	32296183
Intra	FA2H	Q7L5A8	SYT2	Homo sapiens	Q8N9I0	Y2H Array	32296183
Intra	FA2H	Q7L5A8	DLG2	Homo sapiens	Q15700	Y2H Prey Pooling	32296183
Intra	FA2H	Q7L5A8	DLG2	Homo sapiens	Q15700	Y2H Array	32296183
Intra	FA2H	Q7L5A8	TMEM14B	Homo sapiens	Q9NUH8	Validated Y2H	32296183
Intra	FA2H	Q7L5A8	TMEM14B	Homo sapiens	Q9NUH8	Y2H Array	32296183
Intra	FA2H	Q7L5A8	TMEM14B	Homo sapiens	Q9NUH8	Y2H Prey Pooling	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration	Fatty Acid Hydroxylase-Associated Neurodegeneration Fahn SPG35 Leukodystrophy, Dysmyelinating, And Spastic Paraparesis With Or Without Dystonia Spastic Paraplegia 35, Autosomal Recessive Spastic Paraplegia 35 Dysmyelinating Leukodystrophy And Spastic Paraparesis Leukodystrophy Dysmyelinating And Spastic Paraparesis With Or Without Dystonia Spastic Paraplegia-35 Paraplegia, Spastic, Autosomal Recessive, Type 35
Hereditary Spastic Paraplegia 35	Autosomal Recessive Spastic Paraplegia Type 35 Spg35 Autosomal Recessive Spastic Paraplegia 35 Fahn Fatty Acid Hydroxylase-Associated Neurodegeneration Leukodystrophy, Dysmyelinating And Spastic Paraparesis With Or Without Dystonia
Hereditary Spastic Paraplegia	Familial Spastic Paraplegia Hereditary Spastic Paraparesis Strumpell-Lorrain Disease Familial Spastic Paraparesis Hsp Spg Strümpell-Lorrain Disease Spastic Paraplegia, Hereditary French Settlement Disease Strumpell-Lorrain Syndrome Fsp Spastic Paraplegia, Familial Spastic Paraplegia Hereditary Spastic Paraplegia 3, Autosomal Dominant Spastic Paraparesis Hereditary Spastic Paralysis Familial Spastic Paralysis Hereditary Spastic Ataxia
Neurodegeneration With Brain Iron Accumulation	Nbia Neurodegeneration With Brain Iron Accumulation Disorders Neurodegeneration, With Brain Iron Accumulation
Leukodystrophy	Leukodystrophies
Paraplegia	Paraplegia, Lower Severe Or Complete Loss Of Motor Function In The Lower Extremities And Lower Portions Of The Trunk
Spastic Paraparesis
Spastic Ataxia	Spax Ataxia, Spastic
Dystonia	Dystonic Disease Dystonic Disorder Dystonia Disorders Neuroleptic Dyskinesia
Spastic Paraplegia 73, Autosomal Dominant	SPG73 Hereditary Spastic Paraplegia 73 Autosomal Dominant Spastic Paraplegia Type 73 Autosomal Dominant Spastic Paraplegia 73 Paraplegia, Spastic, Autosomal Dominant, Type 73
Neurodegeneration With Brain Iron Accumulation 2a	Infantile Neuroaxonal Dystrophy Plan Seitelberger Disease Inad Infantile Neuroaxonal Dystrophy 1 Inad1 Pla2g6-Associated Neurodegeneration NBIA2A Neuroaxonal Dystrophy, Infantile Neurodegeneration, Pla2g6-Associated Neurodegeneration With Brain Iron Accumulation, Pla2g6-Related Phospholipase A2-Associated Neurodegeneration Nbia2 Pla2g6-Related Disorders Infantile Neuroaxonal Dystrophy/Atypical Neuroaxonal Dystrophy Karak Syndrome, Included Nbia2b Neuroaxonal Dystrophy, Atypical Neurodegeneration With Brain Iron Accumulation 2b Nbia, Pla2g6-Related Seitelberger'S Disease Neurodegeneration Pla2g6-Associated Dystrophy, Neuroaxonal, Infantile Neurodegeneration, With Brain Iron Accumulation, Type 2a Neuroaxonal Dystrophies Neurodegeneration With Brain Iron Accumulation 2
Neurodegeneration With Brain Iron Accumulation 3	Neuroferritinopathy NBIA3 Ferritin-Related Neurodegeneration Hereditary Ferritinopathy Basal Ganglia Disease, Adult-Onset Adult Basal Ganglia Disease Neuroferritinopathy Basal Ganglia Disease, Adult-Onset Basal Ganglia Disease Adult-Onset Adult-Onset Basal Ganglia Disease Neurodegeneration, With Brain Iron Accumulation, Type 3
Kufor-Rakeb Syndrome	Park9 Krppd KRS Pallidopyramidal Degeneration With Supranuclear Upgaze Paresis And Dementia Autosomal Recessive Parkinson Disease 9 Parkinson Disease 9 Parkinson Disease 9, Autosomal Recessive, Juvenile-Onset Autosomal Recessive Juvenile Onset Parkinson Disease 9 Parkinson Disease Type 9 Pallidopyramidal Degeneration With Supranuclear Upgaze Paresis, And Dementia Park 9 Atp13a2-Related Juvenile Neuronal Ceroid Lipofuscinosis Cln12 Disease Juvenile Parkinsonism-Neuronal Ceroid Lipofuscinosis Parkinson Disease Autosomal Recessive 9
Neuropathy, Hereditary Sensory, Type Iic	HSN2C Hereditary Sensory Neuropathy Type 2c Hereditary Sensory Neuropathy Type Iic Neuropathy, Hereditary Sensory, Type 2c Neuropathy, Hereditary Sensory, 2c Hsn Iice Neuropathy, Sensory, Hereditary, Type Iic
Neurodegeneration With Brain Iron Accumulation 2b	NBIA2B Neurodegeneration With Brain Iron Accumulation, Pla2g6-Related Neuroaxonal Dystrophy, Atypical Karak Syndrome Atypical Neuroaxonal Dystrophy Neurodegeneration With Brain Iron Accumulation Pla2g6-Related Neurodegeneration, With Brain Iron Accumulation, Type 2b Neurodegeneration With Brain Iron Accumulation 2
Woodhouse-Sakati Syndrome	Diabetes-Hypogonadism-Deafness-Intellectual Disability Syndrome Woodhouse Sakati Syndrome Hypogonadism, Alopecia, Diabetes Mellitus, Mental Retardation, Deafness, And Extrapyramidal Syndrome WDSKS Extrapyramidal Disorder, Progressive, With Primary Hypogonadism, Mental Retardation, And Alopecia Diabetes-Hypogonadism-Hearing Loss-Intellectual Disability Syndrome Progressive Extrapyramidal Disorder With Primary Hypogonadism, Mental Retardation, Alopecia Hypogonadism, Alopecia, Diabetes Mellitus, Intellectual Disability, Extrapyramidal Syndrome Neuroectodermal Endocrine Syndrome Hypogonadism, Diabetes Mellitus, Alopecia, Mental Retardation, And Electrocardiographic Abnormalities Hypogonadism, Alopecia, Diabetes Mellitus, Mental Retardation, And Extrapyramidal Syndrome Hypogonadism, Diabetes Mellitus, Alopecia, Mental Retardation And Electrocardiographic Abnormalities Wss
Neurodegeneration With Brain Iron Accumulation 1	Pantothenate Kinase-Associated Neurodegeneration Pkan NBIA1 Hallervorden-Spatz Disease Hallervorden-Spatz Syndrome Pigmentary Pallidal Degeneration Neuroaxonal Dystrophy, Late Infantile Neurodegeneration With Brain Iron Accumulation Type 1 Classic Pantothenate Kinase-Associated Neurodegeneration Pkan Neuroaxonal Dystrophy, Juvenile-Onset Brain Iron Accumulation Type I Syndrome Nbia Neurodegeneration With Brain Iron Accumulation Nbia1, Classic Form Neurodegeneration With Brain Iron Accumulation Type 1, Classic Form Pkan, Classic Form Atypical Pantothenate Kinase-Associated Neurodegeneration Nbia1, Atypical Form Neurodegeneration With Brain Iron Accumulation Type 1, Atypical Form Pkan, Atypical Form Hss Pkan Neuroaxonal Dystrophy Juvenile-Onset Neurodegeneration, With Brain Iron Accumulation, Type 1
Spastic Paraplegia 54, Autosomal Recessive	SPG54 Hereditary Spastic Paraplegia 54 Autosomal Recessive Spastic Paraplegia Type 54 Autosomal Recessive Spastic Paraplegia 54 Paraplegia, Spastic, Type 54, Autosomal Recessive
Spastic Paraplegia 43, Autosomal Recessive	SPG43 Hereditary Spastic Paraplegia 43 Autosomal Recessive Spastic Paraplegia Type 43 Autosomal Recessive Spastic Paraplegia 43 Paraplegia, Spastic, Type 43, Autosomal Recessive
Neuroaxonal Dystrophy	Neuroaxonal Dystrophies
Neurodegeneration With Brain Iron Accumulation 4	NBIA4 Mpan Mitochondrial Protein-Associated Neurodegeneration Nbia Due To C19orf12 Mutation Neurodegeneration With Brain Iron Accumulation Due To C19orf12 Mutation Neurodegeneration With Brain Iron Accumulation Type 4 Mitochondrial Membrane Protein Associated Neurodegeneration Neurodegeneration, With Brain Iron Accumulation, Type 4
Neurodegeneration With Brain Iron Accumulation 5	NBIA5 Beta-Propeller Protein-Associated Neurodegeneration Bpan Static Encephalopathy Of Childhood With Neurodegeneration In Adulthood Senda Neurodegeneration With Brain Iron Accumulation Type 5 Neurodegeneration With Brain Iron Accululation 5 Static Encephalopathy Of Childhood With Neurdegeneration In Adulthood Neurodegeneration, With Brain Iron Accululation, Type 5
Spastic Paraplegia 26, Autosomal Recessive	SPG26 Hereditary Spastic Paraplegia 26 Autosomal Recessive Spastic Paraplegia Type 26 Gm2 Synthase Deficiency Spastic Paraplegia 26 Autosomal Recessive Spastic Paraplegia 26 Paraplegia, Spastic, Autosomal Recessive, Type 26
Spastic Paraplegia 2, X-Linked	SPG2 Hereditary Spastic Paraplegia 2 Sppx2 Spastic Paraplegia Type 2 Spastic Paraplegia 2 Hereditary X-Linked Recessive Spastic Paraplegia X-Linked Spastic Paraplegia 2 X Linked Recessive Hereditary Spastic Paraplegia Spastic Gait Type 2 Spastic Paraparesis Type 2 X-Linked Spastic Paraplegia Type 2 Spastic Paraplegia Type 2, X-Linked Spastic Paraplegia-2 Paraplegia, Spastic, Type 2
Sjogren-Larsson Syndrome	Sjögren-Larsson Syndrome SLS Faldh Deficiency Fatty Aldehyde Dehydrogenase Deficiency Fatty Acid Alcohol Oxidoreductase Deficiency Ichthyosis, Spastic Neurologic Disorder, And Oligophrenia Sjogren Larsson Syndrome Fatty Alcohol:Nad+ Oxidoreductase Deficiency Sjogren-Larsson'S Syndrome Fadh Deficiency Fao Deficiency Congenital Icthyosis Mental Retardation Spasticity Syndrome Ichthyosis Oligophrenia Syndrome Sjoegren-Larsson Syndrome
Spastic Paraplegia 14, Autosomal Recessive	SPG14 Hereditary Spastic Paraplegia 14 Autosomal Recessive Spastic Paraplegia Type 14 Autosomal Recessive Spastic Paraplegia 14 Spastic Paraplegia 14
Early-Onset Parkinson'S Disease	Early-Onset Parkinson Disease
Parkinson Disease 15, Autosomal Recessive Early-Onset	Parkinsonian-Pyramidal Syndrome Pallidopyramidal Syndrome Parkinson Disease 15, Autosomal Recessive PARK15 Pkps Pallido-Pyramidal Syndrome Parkinson'S Disease 15 Autosomal Recessive Early-Onset Parkinson Disease 15 Autosomal Recessive Early-Onset Parkinson'S Disease 15 Pallido-Pyramidal Disease Parkinson Disease 15 Parkinson Disease 15 Autosomal Recessive Pps Parkinson Disease, Type 15
Cerebral Degeneration	Brain Degeneration Degenerative Brain Disorder
Masa Syndrome	L1 Syndrome Crash Syndrome X-Linked Hydrocephalus Syndrome SPG1 Gareis-Mason Syndrome Spastic Paraplegia 1, X-Linked Corpus Callosum Hypoplasia-Retardation-Adducted Thumbs-Spasticity-Hydrocephalus Syndrome L1cam Syndrome Spastic Paraplegia 1 Mental Retardation, Aphasia, Shuffling Gait, And Adducted Thumbs Clasped Thumb And Mental Retardation Thumb, Congenital Clasped, With Mental Retardation Adducted Thumb With Mental Retardation Hereditary Spastic Paraplegia 1 X-Linked Complicated Hereditary Spastic Paraplegia Type 1 X-Linked Corpus Callosum Agenesis X-Linked Spastic Paraplegia 1 L1 Disease X-Linked Intellectual Disability - Corpus Callosum Agenesis - Spastic Quadriparesis Adducted Thumb With Intellectual Disability Clasped Thumb And Intellectual Disability Intellectual Disability Aphasia Shuffling Gait Adducted Thumbs Thumb Congenital Clasped With Intellectual Disability X-Linked Intellectual Disability-Corpus Callosum Agenesis-Spastic Quadriparesis Syndrome Adducted Thumbs-Mental Retardation Syndrome Corpus Callosum Hypoplasia, Mental Retardation, Adducted Thumbs, Spastic Paraplegia, Hydrocephalus Syndrome Mental Retardation-Clasped Thumb Syndrome Intellectual Disability-Aphasia-Shuffling Gait-Adducted Thumbs Syndrome Spastic Paraplegia Type 1, X-Linked MASA Corpus Callosum Hypoplasia-Psychomotor Retardation, Adducted Thumbs-Spastic Paraparesis-Hydrocephalus Crash Masa Syndrome
Spinocerebellar Ataxia, Autosomal Recessive 24	SCAR24 Autosomal Recessive Spinocerebellar Ataxia 24 Spinocerebellar Ataxia, Autosomal Recessive, 24 Ataxia, Spinocerebellar, Autosomal Recessive, Type 24
Spastic Paraplegia 10, Autosomal Dominant	SPG10 Hereditary Spastic Paraplegia 10 Autosomal Dominant Spastic Paraplegia Type 10 Spastic Paraplegia 10 Spastic Paraplegia 10 With Or Without Peripheral Neuropathy Autosomal Dominant Spastic Paraplegia 10 Autosomal Dominant Spastic Paraplegia Spastic Paraplegia, Autosomal Dominant Paraplegia, Spastic, Autosomal Dominant, Type 10
Leukodystrophy, Hypomyelinating, 2	Pmld1 Hypomyelinating Leukodystrophy 2 HLD2 Pelizaeus-Merzbacher-Like Disease 1 Pelizaeus-Merzbacher-Like Disease Due To Gjc2 Mutation Pelizaeus-Merzbacher-Like Disease Type 1 Pelizaeus-Merzbacher-Like Disease, 1 Pelizaeus Merzbacher Like Disease Pelizaeus-Merzbacher-Like Disease Pmld - Pelizaeus Merzbacher Like Disease Pelizaeus-Merzbacher-Like Disease Autosomal Recessive Type 1 Pmldar1 Leukodystrophy, Hypomyelinating, Type 2
Spastic Cerebral Palsy	Palsy, Cerebral, Spastic Infantile Hemiplegia Nos Postnatal Infantile Hemiplegia Nos Congenital Spastic Hemiplegia Spastic Hemiplegic Cerebral Palsy Congenital Hemiplegia Nos Hemiplegic Cerebral Palsy Hemiplegic Infantile Cerebral Palsy
Pelizaeus-Merzbacher Disease	PMD HLD1 Pelizaeus-Merzbacher Brain Sclerosis Leukodystrophy, Hypomyelinating, 1 Diffuse Familial Brain Sclerosis Pelizaeus Merzbacher Brain Sclerosis Sudanophilic Leukodystrophy, Paelizeus-Merzbacher Type Cockayne-Pelizaeus-Merzbacher Disease Hypomyelinating Leukodystrophy 1 Leukodystrophy, Sudanophilic Pelizaeus Merzbacher Disease Hypomyelinating Leukodystrophy, 1 Sudanophilic Leukodystrophy Pelizaeus-Merzbacher Disease, Connatal Form Connatal Pmd Pelizaeus-Merzbacher Disease Type Ii Severe Pmd Null Syndrome Plp1 Null Syndrome Pelizaeus-Merzbacher Disease, Null Syndrome Brain Sclerosis Diffuse Familial Sudanophilic Leukodystrophy Paelizeus-Merzbacher Type Leukodystrophy Hypomyelinating 1 Diffuse Cerebral Sclerosis Of Schilder
Aceruloplasminemia	Cerebellar Ataxia Hypoceruloplasminemia Hemosiderosis, Systemic, Due To Aceruloplasminemia Familial Apoceruloplasmin Deficiency Hereditary Ceruloplasmin Deficiency Deficiency Of Ferroxidase Hypoceruloplasminemia, Hereditary Ceruloplasmin Deficiency Systemic Hemosiderosis Due To Aceruloplasminemia ACERULOP
Hypomyelinating Leukodystrophy	Hld Leukodystrophy, Hypomyelinating

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Referencia número	Nombre del producto	Efecto	Pureza	Rare Diseases
HY-RS04649	FA2H Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	FA2H	VGNC	VGNC:62030
Rattus norvegicus	FA2H	RGD	RGD:1310347
Mus musculus	FA2H	MGD	MGI:2443327
Macaca mulatta	FA2H	VGNC	VGNC:72312
Canis familiaris	FA2H	VGNC	VGNC:40555
Bos taurus	FA2H	VGNC	VGNC:28692
Others	FA2H	NCBI