1. Gene
  2. LIPN - lipase family member N Gene

LIPN - lipase family member N Gene

中文名称:脂肪酶家族成员 N

种属: Homo sapiens

同用名: LI4; ARCI8; LIPL4; bA186O14.3

基因 ID: 643418 | 基因类型: protein coding

关于 LIPN

Cytogenetic location: 10q23.31 Genomic coordinates (GRCh38): 10:88,757,226-88,779,626 (from NCBI)

This gene has 2 transcripts (splice variants), 155 orthologues, 5 paralogues and is associated with 3 phenotypes. Biased expression in skin (RPKM 5.7), appendix (RPKM 0.9) and 1 other tissue.

功能概要

该基因编码的脂肪酶在表皮颗粒状角质形成细胞中高表达,在角质形成细胞的分化中发挥作用。该基因的突变与 4 型层状鱼鳞病有关。[RefSeq 提供,2011 年 12 月]

The gene encodes a Lipase that is highly expressed in granular keratinocytes in the epidermis, and plays a role in the differentiation of keratinocytes. Mutations in this gene are associated with lamellar ichthyosis type 4. [provided by RefSeq, Dec 2011]

LIPN 基因产物(1)

mRNA Protein Name
NM_001102469.2 NP_001095939.1 lipase member N precursor

LIPN 蛋白结构

Abhydro_lipase

Abhydro_lipase: Partial alpha/beta-hydrolase lipase region (36 - 97)

Abhydrolase_1

Abhydrolase_1: alpha/beta hydrolase fold (112 - 382)

  • 0
  • 100
  • 200
  • 300
  • 398 a.a.
蛋白主名 其他名称

lipase member N

lipase-like abhydrolase domain-containing protein 4

关联疾病

疾病名称 别名
Ichthyosis, Congenital, Autosomal Recessive 8

ARCI8

Autosomal Recessive Congenital Ichthyosis 8

Lamellar Ichthyosis 4

Late-Onset Lamellar Ichthyosis

Lamellar Ichthyosis, Late-Onset

Ichthyosis, Lamellar, 4, Formerly

Li4, Formerly

Li4

Ichthyosis, Congenital, Autosomal Recessive, Type 8

Autosomal Recessive Congenital Ichthyosis

Lamellar Ichthyosis

Congenital Ichthyosiform Erythroderma

Li

Congenital Nonbullous Ichthyosiform Erythroderma

Arci

Congenital Lamellar Ichthyosis

Nonbullous Congenital Ichthyosiform Erythroderma

Cie

Congenital Non-Bullous Ichthyosiform Erythroderma

Erythrodermic Ichthyosis

Nbcie

Ncie

Non-Bullous Congenital Ichthyosiform Erythroderma

Collodion Baby

Ichthyosis, Lamellar

Non Bullous Congenital Ichthyosiform Erythroderma

Ichthyosiform Erythroderma, Brocq Congenital, Nonbullous Form

Ichthyosiform Erythroderma, Congenital, Nonbullous, 1

Collodion Baby Syndrome

Ichthyoses, Lamellar

Nbie

Nonbullous Ichthyosiform Erythroderma

Classic Lamellar Ichthyosis

Ichthyosiform Erythroderma Nonbullous Congenital

Ichthyosiform Erythroderma Congenital

Ichthyosis, Congenital, Autosomal Recessive

Ichthyosiform Erythroderma, Congenital

Collodion Fetus

Non-Bullous Ichthyosiform Erythroderma

Ichthyosis

Ichthyoses

Non-Syndromic Ichthyosis

Congenital Ichthyosis

Facial Nerve Disease

Facial Nerve Disorder

Facial Nerve Diseases

Neuropathy Of Facial Nerve

Disorders Of 7th Cranial Nerve

Disorders Of The Seventh Cranial Nerve

Bell'S Palsy

Bell Palsy

Facial Nerve Palsy

Facial Palsy

Facial Paralysis

Bell'S Palsy

Antoni'S Palsy

Facial Cranial Nerve Paralysis

Idiopathic Facial Palsy

Refrigeration Palsy

Facial Nerve Paralysis

Seventh Cranial Nerve Paralysis

Face Paralysis Nos

Facial Paralysis

Facial Palsy

Bell Palsy

Premenstrual Tension

Premenstrual Syndrome

Pmt - [Premenstrual Tension]

Premenstrual Tension Nos

Syndrome Of Menstruation

Epicondylitis

Tennis Elbow

Lateral Epicondylitis

Golfer'S Elbow

Medial Epicondylitis

Andrel Epicondylitis

Archer'S Elbow

Hockey Elbow

Shooter'S Elbow

Facial Neuralgia
Speech And Communication Disorders

Language Disorder

Communication Disorder

Language Disorders

Communication Disorders

Speech Language Disorder

Speech-Language Disorder

Communication Impairment

Speech And Language Disorder

Pain Agnosia

Analgesia

Brain Stem Infarction

Brain Stem Infarctions

Brainstem Infarction

Cerebellar Liponeurocytoma

Lipomatous Medulloblastoma

Central Neurocytoma

Ichthyosis, Congenital, Autosomal Recessive 7

ARCI7

Autosomal Recessive Congenital Ichthyosis 7

Agnosia

Dyspraxia

Primary Visual Agnosia

Dyspraxia Syndrome

Monomodal Visual Amnesia

Visual Amnesia

Agnosia, Primary Visual

Apraxias

Alexia

Nerve Compression Syndrome

Entrapment Neuropathies

Compression Neuropathy

Entrapment Neuropathy

Peripheral Nerve Entrapment Syndrome

Nerve Compression Syndromes

Hereditary Liability To Pressure Palsies

Neurotic Disorder

Neurosis

Reactive Depression

Adjustment Disorders

Neurotic Disorders

Depressive Neurosis

Neurotic Depression

Neurotic Depression Reactive Type

Neurotic Depressive State

Psychoneurosis

Depressive Disorder

Depression, Neurotic

Myofascial Pain Syndrome

Myofascial Pain Syndromes

Myofascial Pain Dysfunction Syndrome

Fibromyalgia

Heel Spur

Calcaneal Spur

Ichthyosis, Congenital, Autosomal Recessive 4b

Harlequin Ichthyosis

Autosomal Recessive Congenital Ichthyosis 4b

Hi

Harlequin Fetus

ARCI4B

Ichthyosis Congenita, Harlequin Fetus Type

Harlequin Type Ichthyosis

'Harlequin Fetus'

Harlequin Type Ichthyosis Congenita

Harlequin Type Ichthyosis Fetalis

Harlequin Baby Syndrome

Ichthyosis Congenita, Harlequin Type

Ichthyosis Fetalis, Harlequin Type

Ichthyosis Congenita Harlequin Fetus Type

Ichthyosis, Harlequin

Ichthyosis, Congenital, Autosomal Recessive, Type 4b

Ichthyosis, Congenital, Autosomal Recessive 4a

Ichthyosis Congenita Iib

Icr2b

Autosomal Recessive Congenital Ichthyosis 4a

ARCI4A

Lamellar Ichthyosis 2

Li2

Ichthyosis, Lamellar, 2, Formerly

Li2, Formerly

Ichthyosis Lamellar 2

Lamellar Ichthyosis, Type 2

Ichthyosis, Lamellar 2

Ichthyosis, Congenital, Autosomal Recessive, Type 4a

Vertebrobasilar Insufficiency

Vertebro-Basilar Insufficiency

Vertebrobasilar Arterial Insufficiency

Vertebrobasilar Artery Syndrome

Spondylosis

Lumbar Spondylosis With Myelopathy

Lumbosacral Spondylosis Without Myelopathy

Spondylogenic Compression Of Lumbar Spinal Cord

Spondylogenic Compression Of Thoracic Spinal Cord

Spondylosis With Myelopathy

Thoracic Or Lumbar Spondylosis With Myelopathy

Trigeminal Nerve Disease

Trigeminal Nerve Diseases

Disorders Of 5th Cranial Nerve

Disorders Of The Fifth Cranial Nerve

Migraine With Or Without Aura 1

Migraine

Migraine With Or Without Aura, Susceptibility To, 1

Migraine Disorder

Migraine Variant

Migraines

Migraine Disorders

Mgr1

Mgau

Ma

Migraine With Or Without Aura

Classic Migraine

Common Migraine

Disorder, Migraine

Headache Migraine

Headache Migrainous

Migraine Headache

Migraine Syndrome

Headache Including Migraine

Migraine, Susceptibility To

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 ID
Mus musculus LIPN MGD MGI:1917416
Rattus norvegicus LIPN RGD RGD:1560354
Macaca mulatta LIPN VGNC VGNC:74342
Felis catus LIPN VGNC VGNC:63244
Bos taurus LIPN VGNC VGNC:30909