1. Gene
  2. DEFA6 - defensin alpha 6 Gene

DEFA6 - defensin alpha 6 Gene

中文名称:防御素α6

种属: Homo sapiens

同用名: DEF6; HD-6

基因 ID: 1671 | 基因类型: protein coding

关于 DEFA6

Cytogenetic location: 8p23.1 Genomic coordinates (GRCh38): 8:6,924,697-6,926,076 (from NCBI)

This gene has 1 transcript (splice variant), 1 gene allele, 168 orthologues and 5 paralogues. Restricted expression toward small intestine (RPKM 3311.8).

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。几个 α 防御素基因似乎聚集在 8 号染色体上。由该基因编码的蛋白质防御素 α 6 在小肠潘氏细胞的分泌颗粒中高度表达,并且可能在人体肠道的宿主防御中发挥作用.[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. Several alpha defensin genes appear to be clustered on chromosome 8. The protein encoded by this gene, defensin, alpha 6, is highly expressed in the secretory granules of Paneth cells of the small intestine, and likely plays a role in host defense of human bowel. [provided by RefSeq, Oct 2014]

DEFA6 基因产物(1)

mRNA Protein Name
NM_001926.4 NP_001917.1 defensin-6 preproprotein

DEFA6 蛋白结构

Defensin_propep

Defensin_propep: Defensin propeptide (1 - 27)

Defensin_propep

Defensin_propep: Defensin propeptide (22 - 59)

Defensin_1

Defensin_1: Mammalian defensin (72 - 99)

  • 0
  • 100 a.a.
蛋白主名 其他名称

defensin-6

defensin, alpha 6, Paneth cell-specific

关联疾病

疾病名称 别名
Dacryocystitis

Nasolacrimal Sac Infection

Acute Inflammation Of Lacrimal Passage
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