2. Gene
  3. CFD - complement factor D Gene

CFD - complement factor D Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：补体因子 D

种属: Homo sapiens

同用名: DF; ADN; PFD; ADIPSIN

基因 ID: 1675 | 基因类型: protein coding

关于 CFD

Cytogenetic location: 19p13.3 Genomic coordinates (GRCh38): 19:859,664-863,641 (from NCBI)

This gene has 7 transcripts (splice variants), 1 gene allele, 134 orthologues, 16 paralogues and is associated with 2 phenotypes. Biased expression in fat (RPKM 584.9), colon (RPKM 88.4) and 1 other tissue.

功能概要

该基因编码丝氨酸肽酶 S1 或胰凝乳蛋白酶家族的成员。这种蛋白酶催化 B 因子的裂解，B 因子是补体激活旁路的限速步骤。这种蛋白质还起到脂肪因子的作用，脂肪细胞分泌的一种细胞信号蛋白，可调节小鼠的胰岛素分泌。该基因的突变是补体因子 D 缺乏的基础，这与人类患者的复发性细菌性脑膜炎感染有关。该基因的可变剪接导致多个转录变体。这些变体中至少有一个编码一种前原蛋白，该蛋白经过蛋白水解处理后产生成熟的蛋白酶。[RefSeq 提供，2015 年 11 月]

This gene encodes a member of the S1, or chymotrypsin, family of serine peptidases. This protease catalyzes the cleavage of factor B, the rate-limiting step of the alternative pathway of complement activation. This protein also functions as an adipokine, a cell signaling protein secreted by adipocytes, which regulates Insulin secretion in mice. Mutations in this gene underlie complement Factor D deficiency, which is associated with recurrent Bacterial meningitis infections in human patients. Alternative splicing of this gene results in multiple transcript variants. At least one of these variants encodes a preproprotein that is proteolytically processed to generate the mature protease. [provided by RefSeq, Nov 2015]

CFD 基因产物(2)

mRNA Protein Name
NM_001317335.2 NP_001304264.1 complement factor D isoform 2 precursor
NM_001928.4 NP_001919.2 complement factor D isoform 1 preproprotein

CFD 蛋白结构

Trypsin

Trypsin: Trypsin (26 - 248)

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

complement factor D

C3 convertase activator

重组 CFD 蛋白

目录号 产品名 蛋白编号 纯度
HY-P7861 Complement Factor D/Adipsin Protein, Human (HEK293, His) P00746 (I26-A253) ≥95%
HY-P78545 Complement Factor D/Adipsin Protein, Human (HEK293, Fc) P00746 (I26-A253) ≥95%
HY-P7861A Complement Factor D/Adipsin Protein, Human (HEK293, His, Solution) P00746 (I26-A253) ≥95%

关联疾病

疾病名称 别名
Complement Factor D Deficiency

Recurrent Neisseria Infections Due To Factor D Deficiency

CFDD

Factor D Deficiency

Deficiency, Complement Factor D
Meningococcemia
Myofibrillar Myopathy 10

MFM10

Myopathy, Myofibrillar, 10
Bacterial Meningitis

Meningitis, Bacterial

Meningitis Bacterial

Bm - [Bacterial Meningitis]

Leptomeningitis Bacterial

Pachymeningitis Bacterial

Arachnoiditis Bacterial
Anorexia Nervosa

Anorexia Nervosa, Susceptibility To

ANON

Anorexia Nervosa, Susceptibility To, 1

An

Anorexia Nervosa 1

An - [Anorexia Nervosa]
Body Mass Index Quantitative Trait Locus 11

OBESITY

Obesity, Susceptibility To

Leanness, Inherited

Obesity, Susceptibility To, Bmiq11

Obesity, Mild, Early-Onset

Obesity, Association With

Obesity, Early-Onset, Susceptibility To

Obesity, Severe

Obesity, Severe, And Type Ii Diabetes

Obesity, Late-Onset

Obesity , Susceptibility To

BMIQ11

Obesity Bmiq11

Obesity, Early-Onset

Simple Obesity Nos

Excess Fat

Obesity, Not Elsewhere Classified, Body Mass Index Not Elsewhere Classified

Adiposis
Chronic Kidney Disease

Chronic Renal Disease

Chronic Kidney Failure

Ckd

Chronic Renal Failure

Kidney Failure, Chronic

Chronic Renal Failure Syndrome

Crf

Renal Failure - Chronic

Renal Failure Chronic

Chronic Kidney Diseases

Chronic Kidney Disease Stage 5

Ckd - [Chronic Kidney Disease]

Crf - [Chronic Renal Failure]

Chronic Kidney Impairment

Chronic Renal Impairment

Chronic Kidney Shutdown

Chronic Hypoxic Kidney Failure

Chronic Kidney Collapse

Chronic Renal Insufficiency

Chronic Kidney Toxaemia

Chronic Kidney Hypofunction

Chronic Renal Suppression

Chronic Renal Failure, Stage 5

Ckd - [Chronic Kidney Disease] Stage 5

End Stage Kidney Failure

End Stage Renal Failure

End Stage Kidney Disease

End Stage Renal Disease

End Stage Chronic Renal Failure

Esrf - [End Stage Renal Failure]

Esrd - [End Stage Renal Diseases]

Egfr - [Estimated Glomerular Filtration Rate] < 15 Ml/Min/1.73m²
Hemolytic Uremic Syndrome, Atypical 1

Atypical Hemolytic-Uremic Syndrome

Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1

Atypical Hemolytic Uremic Syndrome

Hemolytic Uremic Syndrome, Atypical, Susceptibility To

Ahus

AHUS1

Hemolytic-Uremic Syndrome

Ahus 1

Ahus, Susceptibility To, 1

Hemolytic Uremic Syndrome, Atypical

Non-Shiga-Like Toxin-Associated Hus

Non-Stx-Hus

Nonenteropathic Hus

Atypical Hus

Shiga Toxin-Associated Hemolytic Uremic Syndrome

D+ Hus

Ehec-Hus

Hemolytic Uremic Syndrome Associated With Shiga Toxin-Producing Escherichia Coli

Hemolytic Uremic Syndrome With Diarrhea

Stec-Hus

Shiga-Like Toxin-Associated Hus

Stx-Hus

Typical Hus

Typical Hemolytic Uremic Syndrome

Atypical Hemolytic Uremic Syndrome With Anti-Factor H Antibodies

Atypical Hus With Anti-Factor H Antibodies

Ahus With Anti-Factor H Antibodies

Ahus With Neutralizing Autoantibodies Against Factor H

Hemolytic Uremic Syndrome Atypical 1

Atypical Hemolytic Uremic Syndrome With H Factor Anomaly

D Hus

Hemolytic-Uremic Syndrome Without Diarrhea

Hemolytic-Uremic Syndrome, Atypical, Type 1

Hemolytic Uremic Syndrome, Typical
Amyotrophic Lateral Sclerosis 1

Amyotrophic Lateral Sclerosis

ALS

Lou Gehrig Disease

Amyotrophic Lateral Sclerosis Type 1

Charcot Disease

ALS1

Amyotrophic Lateral Sclerosis, Susceptibility To

Fals

Lou Gehrig'S Disease

Mnd

Motor Neuron Disease

Familial Amyotrophic Lateral Sclerosis

Amyotrophic Lateral Sclerosis 1, Familial

Amyotrophic Lateral Sclerosis 1, Autosomal Dominant

Motor Neuron Disease, Bulbar

Motor Neurone Disease

Amyotrophic Lateral Sclerosis With Dementia

Dementia With Amyotrophic Lateral Sclerosis

Motor Neuron Disease, Amyotrophic Lateral Sclerosis

Sclerosis, Lateral, Amyotrophic

Sclerosis, Lateral, Amyotrophic, Type 1

Amyotrophic Sclerosis

Als - [Amyotrophic Lateral Sclerosis]

Wasting Palsy

Amyotrophic Paralysis

Amyotrophy Lateral Sclerosis

Wasting Paralysis

Spinal Progressive Amyotrophy

Progressive Atrophic Paralysis
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

相关产品

Clinical Phase
抗体抑制剂 (1)
目录号 产品名 作用方式
纯度 Phase
HY-P99298 Lampalizumab Inhibitor 99.46% Phase 3
Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS02559 CFD Human Pre-designed siRNA Set A / 否

直系同源

种属 基因名 来源 基因 ID
Felis catus CFD VGNC VGNC:60826
Mus musculus CFD MGD MGI:87931
Macaca mulatta CFD VGNC VGNC:71115
Canis familiaris CFD VGNC VGNC:39174
Bos taurus CFD VGNC VGNC:97253
Rattus norvegicus CFD RGD RGD:2498
Others CFD NCBI
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