1. Gene
  2. DEGS2 - delta 4-desaturase, sphingolipid 2 Gene

DEGS2 - delta 4-desaturase, sphingolipid 2 Gene

中文名称:δ 4-去饱和酶,鞘脂 2

种属: Homo sapiens

同用名: DES2; FADS8; C14orf66

基因 ID: 123099 | 基因类型: protein coding

关于 DEGS2

Cytogenetic location: 14q32.2 Genomic coordinates (GRCh38): 14:100,143,957-100,166,886 (from NCBI)

This gene has 3 transcripts (splice variants), 194 orthologues and 1 paralogue. Biased expression in small intestine (RPKM 14.4), duodenum (RPKM 11.1) and 13 other tissues.

功能概要

该基因编码一种双功能酶,该酶参与人体皮肤和其他含植物鞘脂的组织中植物鞘脂的生物合成。这种酶可以充当鞘脂 delta (4) -去饱和酶,也可以充当鞘脂 C4-羟化酶。[RefSeq 提供,2008 年 10 月]

This gene encodes a bifunctional enzyme that is involved in the biosynthesis of phytosphingolipids in human skin and in Other phytosphingolipid-containing tissues. This enzyme can act as a sphingolipid delta(4)-desaturase, and also as a sphingolipid C4-hydroxylase. [provided by RefSeq, Oct 2008]

DEGS2 基因产物(1)

mRNA Protein Name
NM_206918.3 NP_996801.2 sphingolipid delta(4)-desaturase/C4-monooxygenase DES2

DEGS2 蛋白结构

Lipid_DES

Lipid_DES: Sphingolipid Delta4-desaturase (DES) (6 - 42)

FA_desaturase

FA_desaturase: Fatty acid desaturase (66 - 286)

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  • 323 a.a.
蛋白主名 其他名称

sphingolipid delta(4)-desaturase/C4-monooxygenase DES2

degenerative spermatocyte homolog 2, lipid desaturase

关联疾病

疾病名称 别名
Fetal Akinesia Deformation Sequence 4

FADS4

Fetal Akinesia Deformation Sequence Syndrome 4

Akinesia, Fetal, Deformation Sequence, Type 4

Hereditary Sensory And Autonomic Neuropathy Type 1

Hereditary Sensory And Autonomic Neuropathy Type I

Hereditary Sensory Neuropathy-Deafness-Dementia Syndrome

Hsan1e

Hsan1

Dnmt1-Related Dementia, Deafness, And Sensory Neuropathy

Hsn1e

Hsnie

Hereditary Sensory Neuropathy Type Ie

Hereditary Sensory Neuropathy-Sensorineural Hearing Loss-Dementia Syndrome

Hereditary Sensory And Autonomic Neuropathy Type Ie

Hereditary Sensory And Autonomic Neuropathy Type 1e

Hereditary Sensory Neuropathy With Hearing Loss And Dementia

Dnmt1-Complex Disorder

Hereditary Sensory And Autonomic Neuropathy Type 1 With Dementia And Hearing Loss

Hsn Ie

Hereditary Sensory Autonomic Neuropathy, Type 1

Hsan1- [Hereditary Sensory And Autonomic Neuropathy Type I]

Fetal Akinesia Deformation Sequence 1

Fetal Akinesia Deformation Sequence

Fads

Fetal Akinesia Sequence

FADS1

Arthrogryposis Multiplex Congenita With Pulmonary Hypoplasia

Pena-Shokeir Syndrome Type 1

Fetal Akinesia Deformation Sequence Syndrome

Arthrogryposis Multiplex Congenita-Pulmonary Hypoplasia Syndrome

Arthrogryposis Multiplex Congenita Pulmonary Hypoplasia

Pena-Shokeir Syndrome, Type I

Foetal Akinesia Deformation Sequence Syndrome

Foetal Akinesia Sequence

Fetal Akinesia Deformation Sequence Syndrome 1

Pena-Shokeir Syndrome, Type 1

Pena Shokeir Syndrome, Type 1

Akinesia, Fetal, Deformation Sequence

Akinesia, Fetal, Deformation Sequence, Type 1

Pena-Shokeir Syndrome Type I

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
Macaca mulatta DEGS2 VGNC VGNC:108293
Mus musculus DEGS2 MGD MGI:1917309
Canis familiaris DEGS2 VGNC VGNC:39883
Rattus norvegicus DEGS2 RGD RGD:1305023
Felis catus DEGS2 VGNC VGNC:61429
Bos taurus DEGS2 VGNC VGNC:27991