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  2. DEFA3 - defensin alpha 3 Gene

DEFA3 - defensin alpha 3 Gene

中文名称:防御素α3

种属: Homo sapiens

同用名: HP3; DEF3; HNP3; HP-3; HNP-3

基因 ID: 1668 | 基因类型: protein coding

关于 DEFA3

Cytogenetic location: 8p23.1 Genomic coordinates (GRCh38): 8:7,015,869-7,018,297 (from NCBI)

This gene has 1 transcript (splice variant), 1 gene allele, 175 orthologues and 5 paralogues. Restricted expression toward bone marrow (RPKM 20860.0).

功能概要

防御素是一类被认为参与宿主防御的抗菌和细胞毒性肽。它们大量存在于中性粒细胞颗粒中,也存在于粘膜表面的上皮细胞中,例如肠道、呼吸道、泌尿道和阴道。防御素家族的成员在蛋白质序列上高度相似,并以保守的半胱氨酸基序为特征。由该基因编码的蛋白质防御素 alpha 3 存在于嗜中性粒细胞的杀微生物颗粒中,可能在吞噬细胞介导的宿主防御中发挥作用。几个 alpha 防御素基因聚集在 8 号染色体上。该基因与防御素 alpha 1 仅一个氨基酸不同。该基因和编码防御素的基因 alpha 1 都存在拷贝数变异。[RefSeq 提供,2014 年 10 月]

Defensins are a family of antimicrobial and cytotoxic Peptides thought to be involved in host defense. They are abundant in the granules of neutrophils and also found in the epithelia of mucosal surfaces such as those of the intestine, respiratory tract, urinary tract, and vagina. Members of the defensin family are highly similar in protein sequence and distinguished by a conserved cysteine motif. The protein encoded by this gene, defensin, alpha 3, is found in the microbicidal granules of neutrophils and likely plays a role in phagocyte-mediated host defense. Several alpha defensin genes are clustered on chromosome 8. This gene differs from defensin, alpha 1 by only one amino acid. This gene and the gene encoding defensin, alpha 1 are both subject to copy number variation. [provided by RefSeq, Oct 2014]

DEFA3 基因产物(1)

mRNA Protein Name
NM_005217.4 NP_005208.1 neutrophil defensin 3 preproprotein

DEFA3 蛋白结构

Defensin_propep

Defensin_propep: Defensin propeptide (1 - 52)

Defensin_1

Defensin_1: Mammalian defensin (66 - 94)

  • 0
  • 94 a.a.
蛋白主名 其他名称

neutrophil defensin 3

defensin 3, neutrophil-specific

重组 DEFA3 蛋白

目录号 产品名 蛋白编号 纯度
HY-P76870 DEFA3/Defensin alpha 3 Protein, Human (HEK293, Fc) P59666 (D39-C94) ≥95%

关联疾病

疾病名称 别名
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1

Eec Syndrome

Rudiger Syndrome 1

Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip-Palate Syndrome 1

EEC1

Eec Syndrome 1

Eec Syndrome-1

Walker-Clodius Syndrome

Ectrodactyly-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome

Eec

Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip-Palate Syndrome

Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome

Ectrodactyly-Cleft Lip/Palate Syndrome

Ectrodactyly-Ectodermal Dysplasia-Cleft Lip/Cleft Palate

Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome

Ectrodactyly, Ectodermal Dysplasia, Clefting Syndrome

Ectrodactyly-Cleft Lip-Palate Syndrome

Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome

Osteogenesis Imperfecta, Type Xvii

Osteogenesis Imperfecta Type 17

OI17

Osteogenesis Imperfecta Type Xvii

Osteogenesis Imperfecta 17

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