1. Gene
  2. PMCH - pro-melanin concentrating hormone Gene

PMCH - pro-melanin concentrating hormone Gene

中文名称:促黑色素浓缩激素

种属: Homo sapiens

同用名: MCH; ppMCH

基因 ID: 5367 | 基因类型: protein coding

关于 PMCH

Cytogenetic location: 12q23.2 Genomic coordinates (GRCh38): 12:102,196,459-102,197,833 (from NCBI)

This gene has 1 transcript (splice variant) and 190 orthologues. Broad expression in bone marrow (RPKM 1.1), lymph node (RPKM 0.9) and 21 other tissues.

功能概要

该基因编码一种前原蛋白,该蛋白经过蛋白水解处理可产生多种蛋白质产物。这些产品包括黑色素浓缩激素 (MCH) 、神经肽-谷氨酸-异亮氨酸 (NEI) 和神经肽-甘氨酸-谷氨酸 (NGE) 。黑色素浓缩激素是一种由 19 个氨基酸组成的神经肽,可以刺激饥饿感,还可以调节能量稳态、生殖功能和睡眠。已在 5 号染色体上鉴定出该基因的假基因。[RefSeq 提供,2015 年 7 月]

This gene encodes a preproprotein that is proteolytically processed to generate multiple protein products. These products include melanin-concentrating hormone (MCH), neuropeptide-glutamic acid-isoleucine (NEI), and neuropeptide-glycine-glutamic acid (NGE). Melanin-concentrating hormone is a 19-amino acid neuropeptide that stimulates hunger and may additionally regulate energy homeostasis, reproductive function, and sleep. Pseudogenes of this gene have been identified on chromosome 5. [provided by RefSeq, Jul 2015]

PMCH 基因产物(1)

mRNA Protein Name
NM_002674.4 NP_002665.2 pro-MCH preproprotein

PMCH 蛋白结构

Pro-MCH

Pro-MCH: Pro-melanin-concentrating hormone (Pro-MCH) (80 - 165)

  • 0
  • 100
  • 165 a.a.
蛋白主名 其他名称

pro-MCH

prepro-MCH

关联疾病

疾病名称 别名
Epilepsy, Familial Temporal Lobe, 5

Familial Temporal Lobe Epilepsy 5

ETL5

Epilepsy, Temporal Lobe, Familial, Type 5

Huntington Disease

Huntington'S Disease

Huntington Chorea

Huntington'S Chorea

HD

Huntington Chronic Progressive Hereditary Chorea

Juvenile Huntington Disease

Chronic Progressive Chorea

Chronic Progressive Hereditary Chorea

Hc - [Huntington Chorea]

Hereditary Chorea

Progressive Hereditary Chorea

Stormorken Syndrome

Thrombocytopathy, Asplenia, And Miosis

Stormorken-Sjaastad-Langslet Syndrome

STRMK

York Platelet Syndrome

Yps

Thrombocytopathy, Asplenia And Miosis

Thrombocytopathy Asplenia Miosis

Thrombocytopathy-Asplenia-Miosis Syndrome

Miosis Disorder

Cartilage-Hair Hypoplasia

Metaphyseal Chondrodysplasia, Mckusick Type

CHH

Mckusick Type Metaphyseal Chondrodysplasia

Metaphyseal Dysplasia Without Hypotrichosis

Cartilage Hair Hypoplasia Like Syndrome

Metaphyseal Chondrodysplasia Mckusick Type

Chhv

Cartilage-Hair Hypoplasia Variant, Skeletal Manifestations Only

Cartilage-Hair Hypoplasia-Like Skeletal Dysplasia Without Hypotrichosis Or Immunodeficiency

Cartilage-Hair Syndrome

Mckusick'S Metaphyseal Chondrodysplasia Syndrome

Metaphyseal Chondrodysplasia, Recessive Type

Autosomal Recessive Metaphyseal Chondrodysplasia

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

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
Bos taurus PMCH VGNC VGNC:33068
Canis familiaris PMCH VGNC VGNC:44729
Rattus norvegicus PMCH RGD RGD:3358
Mus musculus PMCH MGD MGI:97629